LCHAD deficiency
long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/mitochondrial trifunctional protein (MTP) deficiency
Synopsis
hypoketotic hypoglycemia
rhabdomyolysis
cardiomyopathy
retinopathy
peripheral neuropathy
in pregnant mother
- acute fatty liver of pregnancy
- hemolysis
- elevated liver enzymes
- low platelets
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