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isobutyryl-CoA dehydrogenase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
Uniprot Description The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia).
Mondo Term and Equivalent IDs
MONDO:0012648:  isobutyryl-CoA dehydrogenase deficiency
GARD:0010223: 
MESH:C535541: 
NCIT:C129975: 
Orphanet:79159: 
UMLS:C1969809: