Short-chain acyl-CoA dehydrogenase deficiency

Print

Disease Overview

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy.[425] This condition belongs to a group of disorders known as fatty acid oxidation disorders (FOD).[426] SCAD deficiency is caused by mutations in the ACADS gene.[425] These mutations lead to a shortage (deficiency) of an enzyme known as short-chain acyl-CoA dehydrogenase, which is involved in the breakdown of short-chain fatty acids. When not enough of this enzyme is present, excessive amounts of fatty acids and ammonia accumulate in the body.[425][426] The symptoms of SCAD deficiency include a lack of energy, poor growth, and developmental delay.[425] Treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting).[426]


Synonyms

  • SCAD deficiency
  • ACADS deficiency
  • SCADH deficiency
  • Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency
  • Short-chain acyl-coenzyme A dehydrogenase deficiency

For more information, visit GARD.

National Organization for Rare Disorders