long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

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.

Signs and symptoms

• Decreased 3-hydroxyacyl-CoA dehydrogenase level
• Hypotonia
• Hepatomegaly
• Pigmentary retinopathy
• Hypoglycemia
• Cardiomyopathy
• Sudden death