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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE V)
DILATED CARDIOMYOPATHY WITH ATAXIA SYNDROME (DCMA)
610198
OMIM = Online Medalian Inheritance of Men
66634
3q26.33
very rare
autosomal recessive
mutation in the DNAJC19 gene
has been identified in the Canadian Dariusleut Hutterite population
symptoms
ataxia
cardiac arrest
cardiomyopathy
cryptorchism
early death
failure to thrive
growth retardation
hypospadia
mental retardation
muscle weakness
optic atrophy
seizures
testicular dysgenesis
laboratory finding
Transaminases0.000.00 normal-increasedserumall
3-Methylglutaconic acid0.000.00 increasedurineno data
3-Methylglutaric acid0.000.00 increasedurineno data
Literature
Crespillo Jet al.APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability propertiesMol Cell Biochem2540359-3632003
Huemer M,et al.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesJ Inherit Metab Dis3861007-10192015
Muraki Ket al.Clinical implications of duplicated mtDNA in Pearson syndromeAm J Med Genet983205-2092001
Linnebank Met al.Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL geneHum Genet1110350-3592002
Hayasaka K2-Ketoadipic dehydrogenase deficiency (2-ketoadipic acidemia)Ryoikibetsu Shokogun Shirizu180336-3371998
Vesela Ket al.Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 geneActa Paediatr9301312-13172004