Term Name:	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Synonyms:
Definition:	A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase.
Ontology:	Human Disease [DOID:0061186]   ( DOID:0061186 )