GTR Home > Conditions/Phenotypes > Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Summary

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). [from OMIM]

Associated cytogenetic location

  • Location: 2p23.3

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