LCHAD deficiency; Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
Supergrp
Mitochondrial trifunctional protein deficiency [DS:H01352] Disorders of mitochondrial fatty-acid oxidation [DS:H00525] Secondary hyperammonemia [DS:H01400] Mitochondrial disease [DS:H01427]
Description
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by hypo-ketotic hypoglycemia, vomiting, lethargy, hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD deficiency.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 Inborn errors of lipid metabolism
H00489 LCHAD deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06020 beta-Oxidation in mitochondria
H00489 LCHAD deficiency
