Diagnosis, treatment and follow-Up in four children with biotinidase deficiency from Pakistan

Authors

Bushra Afroze, Aga Khan University
Mohammad Wasay, Aga Khan UniversityFollow

Document Type

Article

Department

Medicine

Abstract

Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan

Publication (Name of Journal)

Journal of the College of Physicians and Surgeons Pakistan

Recommended Citation

Afroze, B., Wasay, M. (2013). Diagnosis, treatment and follow-Up in four children with biotinidase deficiency from Pakistan. Journal of the College of Physicians and Surgeons Pakistan, 23(11), 823-825.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_med_med/124