Pyroglutamic aciduria in propionyl CoA carboxylase deficiency
β Scribed by H. Morishita; S. Nagaya; T. Nakajima; A. Kawase; A. Ohya; S. Sugiyama; K. Kamiya; I. Watanabe; H. Togari; Y. Suzuki; M. Kobayashi; Y. Ogawa; Y. Wada; Y. Hokazono; N. Sugiyama
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 212 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an inherited deficiency of propionyl-CoA carboxylase. These included the isoleucine metabolites 2-methyl-3-hydroxybutyric acid and 2-methylacetoacetic acid. These isomers 3-hy
An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. "Ketotic hyperglycinemia" was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA