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Summary
GLUTARIC ACIDURIA I (LOW EXCRETER)
ACIDEMIA, GLUTARIC ACIDEMIA I
231670
OMIM = Online Medalian Inheritance of Men
25
19p13.13
rare (1:100.000)
autosomal recessiv
high- or low-excreter variants [Al-Dirbashy OY 2011]
Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy [Fraidakis MJ 2015]
further symptoms and laboratory findings refer to GLUTARIC ACIDURIA I
symptoms
laboratory finding
Glutaric acid normal-increasedurine
3-Hydroxyglutaric acid20.0060.00 mmol/mol Creaurine
Glutarylcarnitine (C5DC) normal-increasedblood
Literature
Namboodiri AMet al.Canavan disease and the role of N-acetylaspartate in myelin synthesisMol Cell Endocrinol2520216-2232006
Homma Ket al.Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosteroneJ Clin Endocrinol Metab9172643-26492006