long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Term ID

DOID:0061186

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. (3)

References

• GARD:6867
• MIM:609016
• ORDO:5

Ontology

Human Disease   ( DOID:0061186 )