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Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl

✍ Scribed by Barry Wolf; Elsa P. Paulsen; Y. Edward Hsia


Book ID
119457813
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
291 KB
Volume
95
Category
Article
ISSN
1097-6833

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Abnormal metabolites of isoleucine in a
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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