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Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency

✍ Scribed by Lawrence Sweetman; Walter Weyler; William L. Nyhan; Carlos de Céspedes; Alba Rosa Loria; Yadira Estrada

Publisher
John Wiley and Sons
Year
1978
Tongue
English
Weight
954 KB
Volume
5
Category
Article
ISSN
1076-5174

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✦ Synopsis

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-hydroxyvaleric acid and 3-oxovaleric acid were found, which may be products of the condensation of propionyl-CoA with acetyl-CoA catalyzed by 3-oxoacyl-CoA thiolases. Following a load of isoleucine, 2-methylbutyrylglycine was identified. This metabolite has not previously been observed in man.

📜 SIMILAR VOLUMES

Propionyl-CoA carboxylase deficiency wit
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels
✍ Hildegard Przyrembel; H. J. Bremer; M. Duran; Lieneke Bruinvis; D. Ketting; S. K 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 829 KB

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