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Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

โœ Scribed by E. Christensen; A. Ribes; B. Merinero; J. Zschocke


Book ID
111574806
Publisher
Springer
Year
2004
Tongue
English
Weight
125 KB
Volume
27
Category
Article
ISSN
0141-8955

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## Abstract Glutarylโ€CoA dehydrogenase deficiency is an inherited organic aciduria with predominantly neurological presentation. Biochemically, it is characterized by an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3โ€hydroxyglutaric acid. If untreated, acu