Catalog

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

No MMS code

Link to WHO Definition

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency – http://id.who.int/icd/entity/760613381

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive inherited condition, marked with hypotonia, hypoketotic hypoglycaemia during long fast or infections usually associated with hypertrophic cardiomyopathy before the age of 2. Most patients later develop retinopathy and peripheral neuropathy.