Journal of Inherited Metabolic Disease
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Substrate deprivation therapy in juvenile Sandhoff disease
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Summary Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease.
So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient,
who initially presented at the age of 3.5 years with epilepsy and regression in motor skills and speech development. Juvenile
Sandhoff disease was diagnosed on the basis of a decreased hexosaminidase activity in leukocytes and a homozygous HEXB gene mutation. After the epilepsy was controlled, the clinical course remained stable for years, defined b...
Source: Journal of Inherited Metabolic Disease - November 6, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Miglustat therapy in juvenile Sandhoff diseaseEmail this article to a colleague.
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Summary GM2-gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes
encoding the lysosomal enzyme β-hexosaminidase, resulting in the accumulation of ganglioside GM2 in various tissues, particularly the central nervous system. It is characterized by progressive neurological deterioration
that mainly affects motor and spinocerebellar function. Several forms of GM2-gangliosidosis exist, including the Sandhoff variant. Currently there is no treatment for these conditions, except for palliative
care. Miglustat (Zavesca) is a reversible inhibitor of ...
Source: Journal of Inherited Metabolic Disease - November 6, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk preventionEmail this article to a colleague.
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Summary Children with familial hypercholesterolaemia (FH) have severely increased low-density lipoprotein cholesterol (LDL-C) levels
that strongly predispose to premature cardiovascular disease (CVD) later in life. Early identification makes it possible to
start lipid-lowering therapy at young age to prevent CVD. The atherosclerotic process can be inhibited by potent lipid-lowering
therapy. The cornerstone of lipid-lowering therapy is a healthy lifestyle, but most of the time this is insufficient to reach
adequate LDL-C goals. Subsequently, pharmacological therapy is initiated with increasing frequency. In t...
Source: Journal of Inherited Metabolic Disease - November 6, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compressionEmail this article to a colleague.
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We report a 38-year-old female Scheie patient who has been on ERT for 8 years. While non-neurological symptoms improved, she
developed paresthesias in her hands and feet and progressive pain in her legs. Somatosensory evoked potentials were abnormal,
suggesting dysfunction of the dorsal funiculus and lemniscus medialis. After 6 years of ERT, a spinal MRI showed dural thickening
at the upper cervical spine. These soft-tissue deposits are presumably due to the accumulation of mucopolysaccharides. Intramedullary
hyperintensities at the level of C1/2 revealed cervical myelopathy. An MRI before the start of ERT ha...
Source: Journal of Inherited Metabolic Disease - November 5, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Ear symptoms in children with Fabry disease: data from the Fabry Outcome SurveyEmail this article to a colleague.
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Conclusions: Hearing loss is a well-known clinical manifestation in patients with Fabry disease. It was reported in significant numbers
of children in the FOS signs and symptoms questionnaire, but confirmed in only 19% by formal audiometry. The subjective hearing
impairment may have been due to middle-ear effusions in many cases. Tinnitus is a well-recognized symptom in Fabry disease
and can present in childhood. The presence of tinnitus correlated with overall disease severity.
Content Type Journal ArticleCategory ORIGINAL ARTICLEDOI 10.1007/s10545-009-1290-xAuthors
A. Keilmann, University Hospital Department for ...
Source: Journal of Inherited Metabolic Disease - October 30, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylationEmail this article to a colleague.
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Summary Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment
of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N-glycosylation, in protein
O-glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways. Most CDG are multisystem diseases
and a large number of signs and symptoms have already been reported in CDG. An exception to this is deafness. This symptom
has not been observed as a consistent feature in CDG. In 2008, a novel defect was identified in protein N...
Source: Journal of Inherited Metabolic Disease - October 24, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Cognitive and social profiles in two patients with cobalamin C diseaseEmail this article to a colleague.
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Summary Cobalamin C (cblC) disease, an inborn error of vitamin B12 metabolism, results in neurometabolic, neurochemical and neuroanatomical changes. Little is known of the long-term effects
of the disorder on cognition and behaviour in children. Here, the complete neuropsychological profiles of two 12-year-old
girls with cblC disease are presented. The two girls were tested longitudinally with standardized neuropsychological tests
including intellectual ability, attention and memory, as well as executive, adaptive and behavioural function. The results
indicate the presence of intellectual dysfunction, attent...
Source: Journal of Inherited Metabolic Disease - October 14, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiencyEmail this article to a colleague.
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In conclusion, severe neurological impairment from BH4 deficiency could be prevented by newborn screening for HPA and proper metabolic management. However, pterin analysis for
early diagnosis of BH4 deficiency is still not available in most developing countries.
Content Type Journal ArticleCategory CASE REPORTDOI 10.1007/s10545-009-1221-xAuthors
N. Vatanavicharn, Faculty of Medicine Siriraj Hospital Division of Medical Genetics, Department of Pediatrics 2 Prannok Road, Bangkoknoi Bangkok Thailand 10700C. Kuptanon, Faculty of Medicine Siriraj Hospital Division of Medical Genetics, Department of Pediatrics 2 Prannok Ro...
Source: Journal of Inherited Metabolic Disease - October 14, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduriaEmail this article to a colleague.
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Summary
l-2-hydroxyglutaric aciduria (l-2-HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by mutations in the gene encoding l-2-hydroxyglutarate dehydrogenase. An assay to evaluate l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) activity in fibroblast, lymphoblast and/or lymphocyte lysates has hitherto been unavailable. We developed an l-2-HGDH enzyme assay in cell lysates based on the conversion of stable-isotope-labelled l-2-hydroxyglutarate to 2-ketoglutarate, which is converted into l-glutamate in situ. The formation of stable isotope labelled l-glutamate is therefore a direct mea...
Source: Journal of Inherited Metabolic Disease - October 11, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Clinical and biochemical studies in mucopolysaccharidosis type II carriersEmail this article to a colleague.
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Summary The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes.
Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 years), were evaluated through pedigree
analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes,
quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling
prog...
Source: Journal of Inherited Metabolic Disease - October 11, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Hydroxocobalamin dose escalation improves metabolic control in cblCEmail this article to a colleague.
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We describe the biochemical response of a 13-year-old boy with worsening
metabolic parameters despite strict adherence to a conventional treatment regimen. We progressively increased the OHCbl dose
from 1 to 20 mg IM per day and observed a dose-dependent response with an 80% reduction of plasma MMA (25 to 5.14 μmol/L;
normal range <0.27 μmol/L), a 55% reduction of tHcy (112 to 50 μmol/L; normal range: 0–13 μmol/L) and a greater than twofold
increase in methionine (17 to 36 μmol/L; normal range: 7–47 μmol/L). This suggests that higher OHCbl doses might be required
to achi...
Source: Journal of Inherited Metabolic Disease - October 11, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Mitochondria and diabetes mellitus: untangling a conflictive relationship?Email this article to a colleague.
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Summary Diabetes mellitus is occasionally observed in patients with skeletal muscle respiratory chain deficiency, suggesting that
skeletal muscle mitochondrial dysfunction might play a pathogenic role in type 2 diabetes (T2D). In support of this hypothesis,
decreased muscle mitochondrial activity has been reported in T2D patients and in mouse models of diabetes. However, recent
work by several groups suggests that decreased muscle mitochondrial function may be a consequence rather than a cause of diabetes,
since decreased mitochondrial function in mice affords protection from diabetes and obesity. We review ...
Source: Journal of Inherited Metabolic Disease - October 11, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish womanEmail this article to a colleague.
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Content Type Journal ArticleCategory IMAGES IN METABOLIC MEDICINEDOI 10.1007/s10545-009-1217-6Authors
M. Machaczka, Karolinska University Hospital Huddinge Hematology Center Karolinska M54, SE-141 86 Stockholm SwedenM. Klimkowska, Karolinska University Hospital Huddinge Department of Pathology Stockholm SwedenH. Hägglund, Karolinska University Hospital Huddinge Hematology Center Karolinska M54, SE-141 86 Stockholm Sweden
Journal Journal of Inherited Metabolic DiseaseOnline ISSN 1573-2665Print ISSN 0141-8955 (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - October 11, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)Email this article to a colleague.
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Summary Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation
which is usually diagnosed in infancy or through neonatal screening. In the absence of population screening, adults with undiagnosed
MCADD can be expected. This review discusses 14 cases that were identified during adulthood. The mortality of infantile patients
is approximately 25% whereas in this adult case series it was shown it to be 50% in acutely presenting patients and 29% in
total. Therefore, undiagnosed individuals are at risk of sudden fatal metabolic decompensation...
Source: Journal of Inherited Metabolic Disease - October 11, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic aciduriasEmail this article to a colleague.
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Summary Dysfunction of proximal tubules resulting in tubulointerstitial nephritis and chronic renal failure is a frequent long-term
complication of methylmalonic acidurias. However, the underlying pathomechanisms have not yet been extensively studied owing
to the lack of suitable in vitro and in vivo models. Application of hydroxycobalamin[c-lactam] has been shown to inhibit the
metabolism of hydroxycobalamin and, thereby, to induce methylmalonic aciduria in rats, oligodendrocytes, and rat hepatocytes.
Our study characterizes the biochemical and bioenergetic effects of long-term exposure of human proximal tu...
Source: Journal of Inherited Metabolic Disease - October 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Pathophysiology of fatty acid oxidation disordersEmail this article to a colleague.
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This article provides an overview of the pathogenesis of fatty acid oxidation disorders. It describes the different
tissue involvement with the disease processes and correlates disease phenotype with the nature of the genetic defect for the
known disorders of the pathway.
Content Type Journal ArticleCategory Fatty Acid OxidationDOI 10.1007/s10545-009-1294-6Authors
M. J. Bennett, University of Pennsylvania and Children’s Hospital of Philadelphia Department of Pathology & Laboratory Medicine 34th Street & Civic Center Blvd, 5NW58 Philadelphia PA 19104 USA
Journal Journal of Inherited Metabolic DiseaseOnline I...
Source: Journal of Inherited Metabolic Disease - October 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Remarkable differences: the course of life of young adults with galactosaemia and PKUEmail this article to a colleague.
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This study investigated the CoL and the social demographical outcomes in these young adults with galactosaemia,
and compared them with the general population and with PKU patients. A total of 15 (88%) adult patients with classical galactosaemia
participated in this study. Classical galactosaemia patients had a delayed social and psychosexual development compared to
their peers from the general population and to PKU patients. Also, they were significantly less frequently married or living
together and significantly less frequently employed than the general population. Our study shows a stark contrast between
patients w...
Source: Journal of Inherited Metabolic Disease - October 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Secondary disorders of glycosylation in inborn errors of fructose metabolismEmail this article to a colleague.
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We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes,
gastro-oesophageal reflux and sporadically elevated Krebs cycle metabolites and lactate. At 14 months microcephaly and hepatomegaly
were noted, with hypertransaminasaemia but normal blood coagulation, glucose, phosphate, and absent urinary reducing substances.
Neurological impairment persisted. Because of hepatic and neurological abnormalities with developmental delay, Tf IEF was
performed and showed a severe type 1 pattern, resulting in a wrong diagnosis of CDG. Subsequently, an aversion to fruits suggested
HFI,...
Source: Journal of Inherited Metabolic Disease - September 20, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Prevalence of classical phenylketonuria in mentally retarded individuals in IranEmail this article to a colleague.
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Summary Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country
were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that
reported for most mentally retarded populations in other countries prior to the implementation of a nationwide newborn screening
programme for PKU. The prevalence of PKU in 1814 mentally retarded inmates housed in shelters in Tehran was 2.81%, and the
prevalence of the disease in 3149 inmates sheltered in other cities and towns was 1.68%. It appears that ...
Source: Journal of Inherited Metabolic Disease - September 18, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Neurometabolic disordersEmail this article to a colleague.
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Content Type Journal ArticleCategory EDITORIALDOI 10.1007/s10545-009-9958-9Authors
Jean-Marie Saudubray, Assistance Publique Hôpitaux de Paris et Université Pierre et Marie Curie (Paris VI) Departement des maladies métaboliques, Federation des maladies du système nerveux Hôpital Pitié-Salpêtrière Paris France
Journal Journal of Inherited Metabolic DiseaseOnline ISSN 1573-2665Print ISSN 0141-8955 (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 16, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in MinnesotaEmail this article to a colleague.
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Summary Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between
1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out
of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound
BTD (0.1 to <0.6 nmol/min per ml) and 26 cases of partial BTD (0.9 to 2.3 nmol/min per ml) were later confirmed through measurement
of serum biotinidase activity. The incidence of combined partial and profound BTD of 1/8540...
Source: Journal of Inherited Metabolic Disease - September 16, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophyEmail this article to a colleague.
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Content Type Journal ArticleCategory IMAGES IN METABOLIC MEDICINEDOI 10.1007/s10545-009-1220-yAuthors
C. P. Barnett, Division of Ophthalmology, The Hospital for Sick Children Division of Clinical and Metabolic Genetics 555 University Ave Toronto Ontario Canada M5G 1X8W.-C. Lam, Division of Ophthalmology, The Hospital for Sick Children Division of Clinical and Metabolic Genetics 555 University Ave Toronto Ontario Canada M5G 1X8A. Schulze, Division of Ophthalmology, The Hospital for Sick Children Division of Clinical and Metabolic Genetics 555 University Ave Toronto Ontario Canada M5G 1X8
Journal Journal of Inheri...
Source: Journal of Inherited Metabolic Disease - September 16, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Inborn errors of metabolism and motor disturbances in childrenEmail this article to a colleague.
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Summary Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of
normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex
origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism.
A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological
responses of gross and fine motor functions. A series of investigations are presented with the primary a...
Source: Journal of Inherited Metabolic Disease - September 16, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature reviewEmail this article to a colleague.
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Summary The congenital disorders of glycosylation (CDG) are a recently described group of inherited multisystem disorders characterized
by defects predominantly of N- and O-glycosylation of proteins. Cardiomyopathy in CDG has previously been described in several subtypes; it is usually associated
with high morbidity and mortality and the majority of cases present in the first 2 years of life. This is the first case with
presentation in late childhood and the article reviews current literature. An 11-year-old female with a background of learning
difficulties presented in cardiac failure secondary to seve...
Source: Journal of Inherited Metabolic Disease - September 16, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiencyEmail this article to a colleague.
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Conclusions: Early recognition of biotinidase deficiency is crucial to avoid permanent damage. Determination of biotinidase activity
should be included in neonatal screening in China. Exon 4 may be a hot-spot for biotinidase gene mutations in Chinese patients.
Four novel gene variations may be disease-causing mutations and should be confirmed by expression studies.
Content Type Journal ArticleCategory SHORT REPORTDOI 10.1007/s10545-009-1238-1Authors
J. Ye, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Department of Pediatric Endocrinology and Genetic Metabolism, Xin Hua ...
Source: Journal of Inherited Metabolic Disease - September 3, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Diagnosis of glutathione synthetase deficiency in newborn screeningEmail this article to a colleague.
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Summary Glutathione synthetase (GSS) deficiency is a rare disorder of glutathione metabolism with varying clinical severity. Patients
may present with haemolytic anaemia alone or together with acidosis and central nervous system impairment. Diagnosis is made
by clinical presentation and detection of elevated concentrations of 5-oxoproline in urine and low GSS activity in erythrocytes
or cultured skin fibroblasts. Diagnosis can be confirmed by mutational analysis. Treatment consists of the correction of acidosis,
blood transfusion, and supplementation with antioxidants. The most important determinants for out...
Source: Journal of Inherited Metabolic Disease - September 3, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniquesEmail this article to a colleague.
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Summary It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects
might be attributed to elevated levels of uric acid, one of the potent low-molecular-weight antioxidants found in plasma.
The present communication describes a use of two analytical methods—cyclic voltammetry and ferric reducing ability of plasma—and
also two chemiluminescence methods to evaluate the total oxidant-scavenging capacities (TOSC) of plasma from GSD Ia patients.
Our results verified the elevation of TOSC in GSD Ia patients and we propose the inclusion of luminesce...
Source: Journal of Inherited Metabolic Disease - September 3, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiencyEmail this article to a colleague.
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Summary 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency was diagnosed in a 1-month-old baby with signs of cerebral distress.
Under a classic treatment using methionine supplementation, methyl donor (betaine) folinic acid, vitamin B6 and vitamin B12, the neuromotor development was satisfactory. At 15 years of age, however, despite no clear modification of the biochemical
markers in body fluids, she developed a clinically overt peripheral axonal neuropathy. Only partial clinical improvement was
obtained after reinforcement of betaine doses. Surveillance of the peripheral nerve is indicated in M...
Source: Journal of Inherited Metabolic Disease - August 20, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
A new case of ALG8 deficiency (CDG Ih)Email this article to a colleague.
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Conclusion: The prognosis of patients with ALG8 deficiency is unfavourable. The majority of affected children have early onset of the
disease with heterogeneous symptoms including multiple organ dysfunction, coagulopathy and protein-losing enteropathy. Neurological
impairment is not a general clinical symptom, but it has to be taken into consideration when thinking about ALG8 deficiency.
Content Type Journal ArticleCategory SHORT REPORTDOI 10.1007/s10545-009-1203-zAuthors
K. Vesela, Charles University Department of Pediatrics, First Faculty of Medicine Ke Karlovu 2 128 08 Prague 2 Czech RepublicT. Honzik, Charles Un...
Source: Journal of Inherited Metabolic Disease - August 18, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat modelEmail this article to a colleague.
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Summary Canavan disease (CD) is a fatal dysmyelinating genetic disorder associated with aspartoacylase deficiency, resulting in decreased
brain acetate levels and reduced myelin lipid synthesis in the developing brain. Here we tested tolerability of a potent acetate
precursor, glyceryl triacetate (GTA), at low doses in two infants diagnosed with CD, aged 8 and 13 months. Much higher doses
of GTA were evaluated for toxicity in the tremor rat model of CD. GTA was given orally to the infants for up to 4.5 and 6 months,
starting at 25 mg/kg twice daily, doubling the dose weekly until a maximum of ...
Source: Journal of Inherited Metabolic Disease - August 14, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Mental retardation and inborn errors of metabolismEmail this article to a colleague.
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Summary In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of
isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients
with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that
can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to
be developed and adapted to different populations. The application of a universal protocol may result in a ...
Source: Journal of Inherited Metabolic Disease - August 14, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Management of neuronopathic Gaucher disease: Revised recommendationsEmail this article to a colleague.
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Summary The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need
of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing
neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose
ERT, although this might be required to treat severe visceral disease.
Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s10545-009-1164-2Authors
A. Vellodi, Metabolic Unit, Great Ormond Street Hos...
Source: Journal of Inherited Metabolic Disease - August 4, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Epilepsy and inborn errors of metabolism in childrenEmail this article to a colleague.
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Summary Epilepsy is a frequent symptom in inborn errors of metabolism, with virtually no specific seizure types or EEG signatures.
It is most important to look quickly for those few inborn errors of metabolism in which specific therapies such as supplementation
of cofactors or diets can make all the difference. If these investigations remain negative, epilepsy has to be treated with
conventional antiepileptic drugs. Still, epilepsy is a potentially treatable symptom of many inborn errors of metabolism,
and optimal treatment is of great importance for patients and their families.
Content Type Journal Artic...
Source: Journal of Inherited Metabolic Disease - July 30, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parametersEmail this article to a colleague.
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Conclusion Outcome in MMAurias is best predicted by the enzymatic subgroup, cobalamin responsiveness, age at onset and birth decade.
The prognosis is still unfavourable in patients with neonatal metabolic crises and non-responsiveness to cobalamin, in particular
mut0 patients.
Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s10545-009-1189-6Authors
F. Hörster, University Children’s Hospital Heidelberg Department of General Pediatrics, Division of Inborn Metabolic Diseases Im Neuenheimer Feld 430 D-69120 Heidelberg GermanyS. F. Garbade, University Children’s Hospital Heidelberg Department of Gen...
Source: Journal of Inherited Metabolic Disease - July 30, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 geneEmail this article to a colleague.
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We report a case with a previously known common mutation in PDHA1 (R263G) with an excellent outcome at 18 years of age. Previous
patients with this mutation have presented with mental retardation and/or Leigh syndrome, while our patient’s clinical outcome
is exceptional. He is cognitively normal and has normal brain MRI. His management includes a stringent carbohydrate-free diet,
as well as supplementation with thiamine, carnitine and vitamin E. This case further broadens the clinical spectrum, including
now an example of a cognitively normal adult with PDH deficiency.
Content Type Journal ArticleCategory SHO...
Source: Journal of Inherited Metabolic Disease - July 29, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Long-term needs of adult patients with organic acidaemias: outcome and prognostic factorsEmail this article to a colleague.
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Conclusions: The approach to adult patients with OA has to be multidisciplinary, with the clinician and dietician as the core of the
team, but with the collaboration of clinical nurses specialists, social workers and other specialist services and the support
of a biochemical and molecular laboratory.
Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s10545-009-1191-12Authors
E. Martín-Hernández, UCLH Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery London UKP. J. Lee, UCLH Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery London UKA. Micciche,...
Source: Journal of Inherited Metabolic Disease - July 25, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading testEmail this article to a colleague.
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Summary
Background: As part of the German Collaborative Study of Children Treated for Phenylketonuria (PKU), a three-day protein loading test
was applied to children at 6 months of age. This load elicits three principal types of blood phenylalanine (Phe) response,
with types I and III clinically corresponding to classic PKU and mild hyperphenylalaninaemia not requiring diet (MHP), respectively.
An intermediate type II, clinically corresponding to mild PKU, is characterized by early decline of blood Phe from above 1200
μmol/L down to levels between 600 and 1200 μmol/L at 72 h. Aims: Unbiased cla...
Source: Journal of Inherited Metabolic Disease - July 21, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27–31)Email this article to a colleague.
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Content Type Journal ArticleCategory LETTER TO THE EDITORDOI 10.1007/s10545-009-9959-8Authors
Alberto Ponzone, University of Torino Department of Pediatrics Torino ItalyAlessandro Mussa, University of Torino Department of Pediatrics Torino ItalyFrancesco Porta, University of Torino Department of Pediatrics Torino Italy
Journal Journal of Inherited Metabolic DiseaseOnline ISSN 1573-2665Print ISSN 0141-8955 (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - July 21, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type CEmail this article to a colleague.
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We describe the differential presentation of schizophrenia-like psychosis in two siblings with the ‘variant’ biochemical presentation
of adult Niemann-Pick disease type C. The male sibling presented with psychosis at age 16 years and cognitive and motor disturbance
at age 25 years, whereas his elder sister, sharing the same mutation but showing less severe biochemical, neuroimaging and
ocular motor parameters, presented with a similar schizophrenia-like illness with associated cognitive and motor disturbance
at age 31 years. Their illness onset, course and response to treatment mirrors the sex dimorp...
Source: Journal of Inherited Metabolic Disease - July 21, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)Email this article to a colleague.
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Summary Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of
iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second
decade of life. Patients with the less severe form do not experience significant cognitive involvement and may survive until
the fifth or sixth decade of life. We studied the relationship of both severity of MPS II and the time period in which patients
died with age at death in 129 patients for whom data were entered retrospectively into HOS (Hunter Outco...
Source: Journal of Inherited Metabolic Disease - July 14, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Inherited disorders in the conversion of methionine to homocysteineEmail this article to a colleague.
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Summary During the last decade much important new information relating to the metabolic pathway from methionine to homocysteine has
been gained. Interest has been stimulated by the discovery of two novel disorders, glycine N-methyltransferase deficiency and S-adenosylhomocysteine hydrolase deficiency. Another disorder in this pathway, methionine adenosyltransferase deficiency, has
been increasingly detected, thanks to the expansion of newborn screening programmes by tandem mass spectrometry technology.
These significant steps allow important insight into the pathogenesis of these three disorders, as well as i...
Source: Journal of Inherited Metabolic Disease - July 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemiasEmail this article to a colleague.
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Conclusion: Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias is probably a marker
of a serious disease. One patient with this complication survived after a strong reduction of glucose administration. Even
if this is probably only a partial intervention, we hypothesize that in this situation a reduction of glucose administration
can reduce almost the risk of persistent hyperglycaemia. Further studies are required to confirm our hypothesis.
Content Type Journal ArticleCategory ONLINE REPORTDOI 10.1007/s10545-009-1141-9Authors
L. Filippi, ‘A. Meyer’ University ...
Source: Journal of Inherited Metabolic Disease - July 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Serum phenylalanine concentrations in patients post trauma and burn correlate to neopterin concentrationsEmail this article to a colleague.
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Content Type Journal ArticleCategory LETTER TO THE EDITORDOI 10.1007/s10545-009-9960-2Authors
S. Scholl-Buergi, Biocenter, Innsbruck Medical University Department of Pediatrics Innsbruck AustriaG. Neurauter, Innsbruck Medical University Division of Biological Chemistry, Biocenter Fritz Pregl Strasse 3 6020 Innsbruck AustriaD. Karall, Biocenter, Innsbruck Medical University Department of Pediatrics Innsbruck AustriaD. Fuchs, Innsbruck Medical University Division of Biological Chemistry, Biocenter Fritz Pregl Strasse 3 6020 Innsbruck Austria
Journal Journal of Inherited Metabolic DiseaseOnline ISSN 1573-2665Print ...
Source: Journal of Inherited Metabolic Disease - July 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotypeEmail this article to a colleague.
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Content Type Journal ArticleCategory IMAGES IN METABOLIC MEDICINEDOI 10.1007/s10545-009-1204-yAuthors
Y. Suzuki, Gifu University Graduate School of Medicine Department of Pediatrics and Medical Education Development Center Yanagido 1-1 Gifu 501-1194 JapanA. Aoyama, Gifu University Graduate School of Medicine Department of Ophthalmology Gifu JapanT. Kato, Gifu University Graduate School of Medicine Department of Pediatrics and Medical Education Development Center Yanagido 1-1 Gifu 501-1194 JapanN. Shimozawa, Gifu University Division of Genomic Research, Life Science Research Center Gifu JapanT. Orii, Orii Clinic Gifu Ja...
Source: Journal of Inherited Metabolic Disease - July 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Experience with the treatment of argininosuccinic aciduria during pregnancyEmail this article to a colleague.
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We present the details of the management and the outcome of a pregnancy of a woman affected with argininosuccinic aciduria.
Management with a closely monitored, protein-restricted diet, supplemented with L-arginine, resulted in the birth of a healthy
infant boy and an uneventful perinatal course for the mother.
Content Type Journal ArticleCategory SHORT REPORTDOI 10.1007/s10545-009-1145-5Authors
L. Reid, Centre hospitalier universitaire de Sherbrooke Service de génétique médicale 3001, 12th Avenue Nord Sherbrooke Québec J1H 5N4 CanadaÉ. Perreault, Centre hospitalier universitaire de Sherbrooke Service de géné...
Source: Journal of Inherited Metabolic Disease - July 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Danon disease: Case report and detection of new mutationEmail this article to a colleague.
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We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy
necessitating heart transplantation. Immunohistochemistry of skeletal muscle and leukocytes, western blot analysis of leukocytes
and cardiac muscle, flow cytometry, and DNA sequencing were performed. Muscle biopsy revealed autophagic vacuolar myopathy
and lack of immunohistochemically detectable LAMP-2. Diagnosis of Danon disease was confirmed by western blot analysis of
myocardial tissue and peripheral blood sample of the patient showing deficiency of LAMP-2 in myocardium and leukocytes. Moreover,
...
Source: Journal of Inherited Metabolic Disease - July 9, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Sleep-related breathing in children with mucopolysaccharidosisEmail this article to a colleague.
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Conclusions: Children with MPS have a high prevalence of significant OSA and thus should be carefully screened for OSA using full polysomnography
and treated accordingly.
Content Type Journal ArticleCategory ORIGINAL ARTICLEDOI 10.1007/s10545-009-1170-4Authors
A. Nashed, The Hospital for Sick Children Toronto Ontario CanadaS. Al-Saleh, The Hospital for Sick Children Toronto Ontario CanadaJ. Gibbons, The Hospital for Sick Children Toronto Ontario CanadaI. MacLusky, The Children’s Hospital of Eastern Ontario Ottawa Ontario CanadaJ. MacFarlane, University of Toronto Department of Paediatrics and Psychiatry Toronto Ont...
Source: Journal of Inherited Metabolic Disease - June 29, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogsEmail this article to a colleague.
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Summary Intravenous enzyme replacement therapy with recombinant human α-l-iduronidase (rhIDU) is used weekly to treat mucopolysaccharidosis (MPS) I. We tested continuous administration of rhIDU at
two dosing levels (0.58 mg/kg per week and 2 mg/kg per week) in MPS I dogs, and compared the efficacy of continuous infusion
with the clinically used 0.58 mg/kg weekly three-hour infusion. Peak plasma concentrations of rhIDU were much higher in weekly-treated
dogs (mean 256 units/ml) than steady-state concentrations in dogs treated with continuous infusion (mean 1.97 units/ml at
0.58 mg/kg per ...
Source: Journal of Inherited Metabolic Disease - June 29, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
Orotic aciduria and uridine monophosphate synthase: A reappraisalEmail this article to a colleague.
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Abstract Three subtypes of hereditary orotic aciduria are described in the literature, all related to deficiencies in uridine monophosphate
synthase, the multifunctional enzyme that contains both orotate: pyrophosphoryl transferase and orotidine monophosphate decarboxylase
activities. The type of enzyme defect present in the subtypes has been re-examined by steady-state modelling of the relative
outputs of the three enzymic products, uridine monophosphate, urinary orotic acid and urinary orotidine. It is shown that
the ratio of urinary outputs of orotidine to orotate provides a means of testing for particula...
Source: Journal of Inherited Metabolic Disease - June 29, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: A case reportEmail this article to a colleague.
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We present the case of a 65-year-old woman with extensive GD I associated with IgM
MGUS, in whom enzyme replacement therapy succeeded in eradicating the monoclonal component. This observation further supports
the idea that enzyme replacement therapy decreases the chronic antigenic stimulation responsible for gammopathies in Gaucher
disease.
Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s10545-009-1207-8Authors
C. Martinez-Redondo, Hospital Universitario J.M. Morales Meseguer Hematology and Clinical Oncology Unit Marqués de los Vélez s/n 30008 Murcia SpainF. J. Ortuño, Hospital Universitario J....
Source: Journal of Inherited Metabolic Disease - June 29, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals
