title: 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.affiliation: Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi.
authors.forename: Bushra
authors.initials: B
authors.lastname: Afroze
authors.forename: Mohammad
authors.initials: M
authors.lastname: Wasay
mesh_terms: D001710:Biotin / Q000008:administration & dosage* / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D010154:Pakistan; D016896:Treatment Outcome
chemical_list: D001710:Biotin