biotinidase deficiency: a reversible neurometabolic disorder (an iranian pediatric case series)

how to cite this article: karimzadeh p, ahmadabadi f, jafari n, jabbehdari s, alaee mr, ghofrani m, taghdiri mm, tonekaboni sh. biotinidase deficiency: a reversible neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 autumn; 7(4):47- 52.   objective biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. if this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmentaldelay and most of clinical manifestations. materials & methods the patients were diagnosed as biotinidase deficiency in neurology department of mofid children’s hospital in tehran, iran, between 2009 and 2012 were included in this study. this study was conducted to define the age, gender, past medical history, developmental status, general appearance, clinical manifestations, neuroimaging findings, and response to treatment in 16 patients with biotinidase deficiency in this department. results in clinical presentation, cutaneous lesions were not found in 37% of the patients and 43% patients had not alopecia. 75% patients had abnormal neuroimaging that in 56% of them, generalized brain atrophy and myelination delay were found. results of the present study showed the efficacy of biotin in early diagnosed patients with seizure and dermatological manifestations. the seizure and skin manifestations were improved after biotin therapy. conclusion according to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs.   references wolf b.disorders of biotin metabolism. in: scriver cr,beaudet al, sly w, et al.,eds. the metabolic and molecularbases of inherited disease, 8thed. new york,ny:mcgraw-hill;2001: 3935-3962. rathi n, rathim.biotinidase deficiency with hypertonia as unusual feature.indianpediatr. 2009;46(1):65-67. wolf b.worldwide survey of neonatal screening for biotinidasedeficiency.j inherit metab dis. 1991;14(6):923-7. dahiphale r, jain s, agrawalm.biotinidasedeficiency. indianpediatr. 2008;45(9):777-779. heard gs,secormcvoy jr,wolf b.a screening method for biotinidase deficiency in newborns.clin chem. 1984;30(1):125–7. desai s, ganesan k, hegdea.biotinidase deficiency: a reversible metabolic encephalopathy. neuroimaging and mr spectroscopic findings in a series of four patients. pediatrradiol. 2008;38(8):848-856. epub 2008 jun 11. wolf b.the neurology of biotinidasedeficiency.mol genet metab. 2011;104(1-2):27-34. epub 2011 jun 12. wastell hj, bartlett k, dale g, et al. biotidinase deficiency: a survey of 10 cases. arch dis child. 1998;63(10):1244-1249. wolf b, pomponio rj, norrgard kj, et al. delayedonset profound biotinidase deficiency. j pediatr.1998; 132(2):362–365. grunewald s, champion mp, leonard jv, et al. biotinidase deficiency: a treatable leukoencephalopathy. neuropediatrics. 2004; 35(4):211–216. wolf b, spencer r, gleason t. hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. j pediatr.2002; 140(2):242–246.