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

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/611283