medium chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
MONDO:0017714
acyl-CoA dehydrogenase deficiency
is_a
ACADM deficiency
exact
ACADMD
related
Acyl-CoA dehydrogenase, medium chain, deficiency of
exact
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
exact
MCAD
exact
MCAD deficiency
exact
MCADD
exact
acyl-CoA dehydrogenase medium chain deficiency of
related
acyl-CoA dehydrogenase, medium-chain deficiency
exact
acyl-CoA dehydrogenase, medium-chain, deficiency OF
related
medium chain acyl CoA dehydrogenase deficiency
related
medium chain acyl-CoA dehydrogenase deficiency
exact
medium chain acyl-coenzyme A dehydrogenase deficiency
exact
medium-chain acyl-CoA dehydrogenase deficiency
exact
medium-chain acyl-Coenzyme A dehydrogenase deficiency
exact