isobutyryl-CoA dehydrogenase deficiency

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isobutyryl-CoA dehydrogenase deficiency2016-11-26T10:55:47+00:00

isobutyryl-CoA dehydrogenase deficiency

METABOLISM

Definition A hereditary condition (OMIM:611283) which first appears in late infancy or childhood, and 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 isobutyryl-CoA dehydrogenase deficiency.

Synonyms ACAD8 deficiency, acyl-CoA dehydrogenase family—member 8—deficiency of, IBD deficiency  

References http://www.uniprot.org/uniprot/Q9UKU7

http://www.omim.org/entry/611283 

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