Journal of Inherited Metabolic Disease This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cardiomyopathy as presenting sign of glycogenin-1 deficiency —report of three cases and review of the literature
We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52  years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His inGYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis. Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and exte...
Source: Journal of Inherited Metabolic Disease - October 6, 2016 Category: Internal Medicine Source Type: research

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
ConclusionsCombination of levels of two or more different GAGs improves separation of MPS patients from unaffected controls, indicating that GAG measurements are potentially valuable biomarkers for newborn screening for MPS. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - October 6, 2016 Category: Internal Medicine Source Type: research

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Source: Journal of Inherited Metabolic Disease - October 4, 2016 Category: Internal Medicine Source Type: research

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
AbstractMitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement. Advances in next-generation sequencing strategies have greatly enhanced the diagnosis of patients with mitochondrial disease, particularly where a mitochondrial aetiology is strongly suspected yet OXPHOS activities in biopsied tissue samples appear normal. We used whole exome sequencing (WES) to identify the molecular basis of an early-onset mitochondrial syndrome —pathogenic biallelic variants in theHTRA2 gene, encoding...
Source: Journal of Inherited Metabolic Disease - September 29, 2016 Category: Internal Medicine Source Type: research