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VLCAD deficiency

MIM.201475 17p11.2-p11.1

Thursday 21 April 2005

Synopsis

- infantile cardiomyopathy with sudden death and acute cardiac failure

  • severe hypertrophic cardiomyopathy
  • cardiomyocytic steatosis

- hepatocellular disease

  • hepatocytic steatosis

- 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