| 单词 | lchad deficiency |
| 释义 | LCHAD deficiencyLCHAD deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Metabolic disease A condition characterized by defective fatty acid oxidation due to a defect in the 3rd enzyme in the β-oxidation pathway in mitochondria Clinical Recurrent episodes of nonketotic hypoglycemia, hypoglycemia, a Reye syndrome-like encephalopathy of acute onset, fatty degeneration of the liver, sudden death in infancy, skeletal myopathy, lactic acidosis, retinal pigmentary changes, hypertrophic cardiomyopathy of varying intensity, and sensory-motor polyneuropathy, chronic severe anemia, recurrent sepsis, delayed CNS myelination; LCHAD deficiency is linked to maternal HELLP and acute fatty liver of pregnancy and attributed to an E474Q mutation in the LCHAD gene in itochondria. See MTP complex. |
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