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LCHAD deficiency |
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LCHAD deficiency
Long-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. Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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LCHAD deficiency |
LCGM LCGME LCGN LCGO LCGP LCGR LCGRR LCGS LCGSA LCGSAR LCGSS LCGT LCGTF LCGTO LCGTO-DF LCGTO-FF LCGTO-LDF LCGTO-LSD-VWN LCGTO-MCP-LSD LCGU LCGW LCH LCHA LCHAD LCHAD deficiency LCHADDLCHAO lCharles the Great.r lCharles the Great.r Lchashen LCHAU LCHAY LCHB LCHBA LCHC LCHCP LCHD LCHDF LCHE LCHEA LCHF LCHG LCHH LCHI LCHIB LCHIC LCHIP LCHL LCHM LCHN | |||||
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