Article
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Journal of inherited metabolic disease - 1 Feb 2007
Kölker S, Christensen E, Leonard J V, Greenberg C R, Burlina A B, Burlina A P, Dixon M, Duran M, Goodman S I, Koeller D M, Müller E, Naughten E R, Neumaier-Probst E, Okun J G, Kyllerman M, Surtees R A, Wilcken B, Hoffmann G F, Burgard P
Abstract excerpt
Glutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine, which can be detected by gas chromatography-mass spectrometry of organic acids or tandem mass spectrometry of acylcarnitines....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.