Inherited disorders of 3-methylcrotonyl CoA carboxylation

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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.

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Leonard, J. V., Seakins, J. W. T., Bartlett, K., Hyde, J., Wilson, J., & Clayton, B. (1981). Inherited disorders of 3-methylcrotonyl CoA carboxylation. Archives of Disease in Childhood, 56(1), 53–59. https://doi.org/10.1136/adc.56.1.53

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