Autoszomális recesszív
An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Vizsgált gének
Más néven
ACADVLD; acyl-CoA dehydrogenase, very long-chain, deficiency OF; Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD); very long-chain acyl-Coenzyme A dehydrogenase deficiency; VLCAD; VLCAD deficiency; VLCADD
