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Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

✍ Scribed by Tien V Nguyen; Brage S Andresen; Thomas J Corydon; Sandro Ghisla; Nasser Abd-El Razik; Al-Walid A Mohsen; Stephen D Cederbaum; Diane S Roe; Charles R Roe; Nicolas J Lench; Jerry Vockley


Book ID
117735436
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
644 KB
Volume
77
Category
Article
ISSN
1096-7192

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## Abstract Glutaryl‐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 3‐hydroxyglutaric acid. If untreated, acu