Mutations in the HADH gene lead to inadequate levels of an enzyme called 3-hydroxyacyl-coenzyme A dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized and processed properly without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Medium-chain and short-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, and muscles, causing more serious complications. This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
Glutaminase deficiency
Pyruvate kinase deficiency
Malonyl-CoA decarboxylase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency