Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > LCHAD deficiency

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 1.1.1.211) and enoyl-CoA hydratase activities (EC 4.2.1.27)

Synopsis

- 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

References

- 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