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LCHAD deficiency

MIM.600890 2p23

Wednesday 25 May 2005

The HADHA and HADHB (MIM.143450) genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively.

The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) step.

The alpha subunit harbors the 3-hydroxyacyl-CoA dehydrogenase (EC and enoyl-CoA hydratase activities (EC


- hypoketotic hypoglycemia
- rhabdomyolysis
- cardiomyopathy
- retinopathy
- peripheral neuropathy
- in pregnant mother

  • acute fatty liver of pregnancy
  • hemolysis
  • elevated liver enzymes
  • low platelets

See also

- anomalies of beta-oxidation of fatty acids


- Oey NA, DEN Boer ME, Wijburg FA, Vekemans M, Auge J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attie-Bitach T. Long-Chain Fatty Acid Oxidation during Early Human Development. Pediatr Res. 2005 Apr 21; PMID: 15845636