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- W2034785651 abstract "Infantile ‘ketotic hyperglycinemia’ is an inborn error of metabolism leading to sever protein intolerance, ketoacidosis, and developmental retardation. The biochemical basis for this disorder was obscure until we found in 1969 that peripheral leukocytes form a girl with this condition failed to catabolize propionate-14C to 14CO2 but oxidized methylmalonate and succinate normally. Since this catabolic defect was also present in her cultured skin fibroblasts, we used extracts of these cells for specific enzyme assays. Propionyl-CoA carboxylase activity was absent, and was not restored by added cofactors. Neither was any enzyme inhibitor detectable. Methylmalonyl-CoA mutase, however, was normal. Significantly, propionyl-CoA carboxylase was clearly reduced in both parents' fibroblasts. Therefore, ‘ketotic hyperglycinemia’ is actually propionyl-CoA carboxylase deficiency, and this explains the protein intolerance and the remarkable similarity of this condition to methylmalonicaciduria. Finally, partial deficiency of this enzyme in her parents proves autosomal recessive inheritance." @default.
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- W2034785651 date "1970-09-01" @default.
- W2034785651 modified "2023-09-27" @default.
- W2034785651 title "Inherited Propionyl-CoA Carboxylase Deficiency in ‘Ketotic Hyperglycinemia’" @default.
- W2034785651 doi "https://doi.org/10.1203/00006450-197009000-00024" @default.
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