short-chain acyl-CoA dehydrogenase deficiency

short-chain acyl-CoA dehydrogenase deficiency

a disorder of fatty acid oxidation; patients may have chronic acidosis, failure to thrive, muscle weakness, and developmental delay.
References in periodicals archive ?
For instance, there has been some confusion about the clinical phenotype of short-chain acyl-CoA dehydrogenase deficiency (SCAD), with a broad range of symptoms reported.
Short-chain acyl-CoA dehydrogenase deficiency is a poorly characterized mitochondrial fatty acid [beta]-oxidation disorder with a very variable clinical picture and at least 35 inactivating mutations and some polymorphic variants have been reported in the SCAD gene (9).
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myophaty and secondary carnitine deficiency.
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated.