Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity

Autors de IIS La Fe

• Isidro Vitoria Miñana

  Autor

• Jaime Dalmau Serra

  Autor

Autors aliens a IIS La Fe

• Rausell, D
• Gonzalez, I
• Perez-Cerda, C

Grups d'Investigació

• Nutrición y Metabolopatías

  Investigador Principal

  Patricia Correcher Medina

Abstract

We report a case of holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity in the lymphocytes of an 8 year-old girl with clinical toxicity without the classic dermatological involvement. The identification of three nucleotide changes in the holocarboxylase synthetase (HLCS) gene, only one of them described as a pathogenic mutation could be related to a slight variant of the disease that would explain the unusual presentation beyond the age of infant. Treatment with biotin at 40 mg/day with protein controlled diet allows normal physical growth and psychomotor development for their age. (C) 2013 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved.

Keywords

• Biotin; Holocarboxylase synthetase; Multiple carboxylase deficiency