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. 1981 Jan;56(1):53–59. doi: 10.1136/adc.56.1.53

Inherited disorders of 3-methylcrotonyl CoA carboxylation.

J V Leonard, J W Seakins, K Bartlett, J Hyde, J Wilson, B Clayton
PMCID: PMC1627071  PMID: 7469453

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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