Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity

作者：Vitoria I^*; Rausell D; Gonzalez I; Perez Cerda C; Dalmau J

来源：Anales de Pediatria, 2014, 80(3): 184-186.

DOI：10.1016/j.anpedi.2013.05.035

• Biotin
• Holocarboxylase synthetase
• Multiple carboxylase deficiency

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.

• 出版日期2014-3