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

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.

• Authors: Bushra Afroze, Mohammad Wasay
• Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (J Coll Physicians Surg Pak) Vol. 23 Issue 10 Pg. 823-5 (Nov 2013) ISSN: 1681-7168 [Electronic] Pakistan
• PMID: 24169397 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biotin

Topics

• Biotin (administration & dosage, therapeutic use)
• Biotinidase Deficiency (diagnosis, drug therapy, genetics)
• Child
• Child, Preschool
• Female
• Follow-Up Studies
• Humans
• Infant
• Male
• Pakistan
• Treatment Outcome