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• W2031232261 abstract "The clinical course of 4 patients who had reduced activities of 3-methylcrotonyl CoA carboxylase (also called 3-methylcrotonylglycinuria) is described. Two children presented with a metabolic acidosis, one in the neonatal period and the other with episodes of acidosis that started in the second year of life. In the other 2 children neurological symptoms were prominent, one having infantile spasms and the other developmental regression with a skin rash and alopecia. Three of the children responded well to oral biotin and dietary protein restriction but the fourth, despite a biochemical response to biotin, has a severe neurological handicap. The clinical presentation of inborn errors of 3-methylcrotonyl CoA carboxylase is variable. Metabolic acidosis may not be conspicuous and instead neurological features may predominate." @default.
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• W2031232261 date "1981-01-01" @default.
• W2031232261 modified "2023-09-24" @default.
• W2031232261 title "Inherited disorders of 3-methylcrotonyl CoA carboxylation." @default.
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• W2031232261 doi "https://doi.org/10.1136/adc.56.1.53" @default.
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