Journal of Inherited Metabolic Disease

, Volume 12, Issue 3, pp 312–316 | Cite as

Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature

  • A. J. Michalski
  • G. T. Berry
  • S. Segal


We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided.


Public Health Internal Medicine Metabolic Disease General Health Biotin 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • A. J. Michalski
    • 1
  • G. T. Berry
    • 1
  • S. Segal
    • 1
  1. 1.Division of Biochemical Development and Molecular Diseases, The Children's Hospital of Philadelphia and Departments of Pediatrics and MedicineThe University of Pennsylvania School of MedicinePhiladelphiaUSA

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