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Metadata
ID	DOID:0061186
Name	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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. https://pubmed.ncbi.nlm.nih.gov/11241049/, https://pubmed.ncbi.nlm.nih.gov/34878152/, https://pubmed.ncbi.nlm.nih.gov/37644104/
Xrefs	GARD:6867 MIM:609016 ORDO:5
Parent Relationships	is_a lipid metabolism disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance