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isobutyryl-CoA dehydrogenase deficiency
Genetics:
- associated with defects in ACAD8
Clinical manifestations:
- onset of symptoms generally late in infancy or in childhood
- poor feeding & growth (failure to thrive)
- dilated cardiomyopathy
- seizures
- anemia
Laboratory:
- complete blood count (CBC): anemia
General
amino acid inborn error of metabolism
Database Correlations
OMIM 611283
References
OMIM :accession 611283