" /> Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency - CISMeF





Preferred Label : Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lchad deficiency;

Description : Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996).;

Prefixed ID : #609016;

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02/05/2025


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