## 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
✦ LIBER ✦
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family
✍ Scribed by E. Christensen; N. J. Brandt; T. Rosenberg; K. Bömers; C. Jakobs
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 254 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia, biochemically by excretion of glutaric and 3-hydroxyglutaric acids in urine, and pathologically by neural degeneration of th