Urinary acid profiles of asymptomatic propionyl CoA carboxylase deficiency
β Scribed by Tomiko Kuhara; Yoshito Inoue; Isamu Matsumoto
- Book ID
- 119463232
- Publisher
- Elsevier Science
- Year
- 1988
- Tongue
- English
- Weight
- 94 KB
- Volume
- 113
- Category
- Article
- ISSN
- 1097-6833
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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