Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency
✍ Scribed by G. F. Hoffmann; H. J. Böhles; A. Burlina; M. Duran; J. Herwig; W. Lehnert; J. V. Leonard; A. Muntau; F. K. Plecko-Starting; A. Superti-Furga; F. K. Trefz; E. Christensen
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 224 KB
- Volume
- 18
- 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
We report the newly successful synthesis of 3-thia-glutaryl-CoA and a partial synthesis of 4-nitrobutyryl-CoA, substrate analogs to glutaryl-CoA dehydrogenase (GCD), an enzyme utilized by mammals and by bacteria in the metabolism of the amino acids L-tryptophan, L-lysine, and L-hydroxylysine. Using