isobutyryl-CoA dehydrogenase deficiency

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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Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
Increased C4-acylcarnitine may reflect either of two very different disorders: isobutyryl-CoA dehydrogenase deficiency in the catabolic pathway of valine (increased isobutyrylcarnitine) or short-chain acyl-CoA dehydrogenase deficiency in fatty acid (3-oxidation (increased butyrylcarnitine).