short chain acyl-CoA dehydrogenase deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
MONDO:0017714
acyl-CoA dehydrogenase deficiency
is_a
ACADS deficiency
exact
ACADSD
related
SCAD
exact
SCAD deficiency
exact
SCADD
exact
Short Chain Acyl CoA Dehydrogenase Deficiency
exact
acyl-CoA dehydrogenase, short-chain deficiency
exact
acyl-CoA dehydrogenase, short-chain, deficiency OF
related
short chain acyl-CoA dehydrogenase deficiency
exact
short-chain acyl-CoA dehydrogenase deficiency
related
short-chain acyl-CoA dehydrogenase deficiency (SCAD)
exact
short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)
exact
short-chain acyl-coenzyme A dehydrogenase deficiency
related