acyl-CoA dehydrogenase family member type 9 (ACAD9) deficiency

Genetics

• associated with defects in ACAD9

Clinical manifestations

• episodic liver dysfunction during otherwise mild illnesses
• cardiomyopathy, along with chronic neurologic dysfunction

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/611126