/long chain acyl-CoA dehydrogenase deficiency

long chain acyl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0020531

Also Known As

LCADacyl-CoA dehydrogenase, long-chain deficiencyinborn error of long-chain-acyl-CoA dehydrogenase activityinborn long-chain-acyl-CoA dehydrogenase activity disorderlong chain acyl-CoA dehydrogenase deficiencylong-chain acyl-CoA dehydrogenase deficiencylong-chain acyl-Coenzyme A dehydrogenase deficiencyrare inborn error of long-chain-acyl-CoA dehydrogenase activityACADL deficiencyLCAD deficiency

Definition

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.