isobutyryl-CoA dehydrogenase deficiency

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isobutyryl-CoA dehydrogenase deficiency

A hereditary condition (OMIM:611283) that first appears in late infancy or childhood, which is characterised by failure to thrive, dilated cardiomyopathy, seizures and anaemia.

Molecular pathology
Defects in ACAD8, which encodes a dehydrogenase that functions in valine catabolism, cause IBDD.
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