Syndromes > A

Acyl-Coa Dehydrogenase Deficiency Syndrome

"Acylated coenzyme A (acyl-CoA) dehydrogenases are a family of mitochondrial enzymes that catalyze the first dehydrogenation step in the beta oxidation of fatty acyl-CoA derivatives. Fatty acids provide important respiratory fuel for many tissues, including heart, brain, skeletal muscle, pancreas, placenta, brown adipose tissue, kidney, and liver. The disorder is inherited as an autosomal recessive trait. Metabolic acidosis, severe hypoglycemia without ketosis, and coma are frequent features of all types of acyl-CoA dehydrogenase deficiency syndrome. It also occurs during adulthood. Large amounts of glutaric acid in the blood and urine are caused by deficiency of the enzyme "multiple acyl-CoA dehydrogenase"...."