Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death.

**Synonyms:** - LCHAD Deficiency