VLCAD deficiency
MIM.201475 17p11.2-p11.1
very long-chain acyl-CoA dehydrogenase deficiency
Synopsis
infantile cardiomyopathy with sudden death and acute cardiac failure
hepatocellular disease
marked lipid accumulation in many tissues
Laboratory investigations
hypoketotic hypoglycemia
very-long-chain acyl-CoA dehydrogenase deficiency
hyperaminemia
increased urinary adipate and sebacate
Etiology
deficiency in very long-chain acyl-CoA dehydrogenase (VLCAD) at 17p11.2-p11.1 (MIM.201475)
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