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Clinical profile and outcome of 6 patients with Biotinidase deficiency: An experience from a tertiary care hospital of Pakistan

Biotinidase deficiency is an autosomal recessive metabolic disorder in which the vitamin biotin is not recycled.1 It’s estimated global incidence of 1:60,000 newborns.2,3 In Pakistan, patients with BD are almost never diagnosed early and often remain misdiagnosed due to lack of awareness among physcians.4

We describe clinical course and follow-up of 6 children who presented in Paediatric Neurology department CH&ICH Faisalabad . Age at onset ranges from 1 month to 3.5 months .Common clinical presentation were metabolic acidosis ,alopecia ,dermatitis, refractory seizures, developmental regression ,epileptic encephalopathy. Consanguinity present in all cases. These children were diagnosed on clinical basis and suggestive urinary organic acid profile .All these cases responded dramatically to oral biotin within days to weeks. Biotinidase deficiency has been reported in Pakistani children from different part of world, however; there are few such reports from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan. References: 1. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991; 14:923-7 2. Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab 2011; 104:27-34. 3. Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr 2002; 140:242-6 4. 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.
Keywords: Biotinidase deficiency.refractory seizures,epileptic encephalopathy,dermatitis