hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
L 3 hydroxyacyl Coenzyme A dehydrogenase short chain
Medium and short chain L 3 hydroxyacyl coenzyme A dehydrogenase
Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
Short chain 3 hydroxyacyl CoA dehydrogenase mitochondrial
short chain 3-hydroxyacyl-coa dehydrogenase
Short-chain 3-hydroxyacyl-CoA dehydrogenase
功能Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
组织特异性Expressed in liver, kidney, pancreas, heart and skeletal muscle.
通路Lipid metabolism; fatty acid beta-oxidation.
疾病相关Defects in HADH are the cause of 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]. HADH deficiency is a metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. Defects in HADH are the cause of familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion.
序列相似性Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.