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Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency

✍ Scribed by S. KÖlker; D. M. Koeller; S. Sauer; F. HÖrster; M. A. Schwab; G. F. Hoffmann; K. Ullrich; J. G. Okun


Book ID
111574798
Publisher
Springer
Year
2004
Tongue
English
Weight
87 KB
Volume
27
Category
Article
ISSN
0141-8955

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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