title: Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
abstract: Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population. Biotinidase is responsible for biotin recycling and biotin is an essential cofactor for activation of the carboxylase enzymes. Absence of biotinidase leads to infantile or early childhood encephalopathy, seizure disorder, dermatitis, alopecia, neural deafness and optic atrophy. The disease can be diagnosed by simple fluorometric enzyme assay. Treatment with biotin is both cheap and simple, resulting in rewarding clinical recovery and normalization of the biochemical, neuroradiological and neurophysiological parameters. If neglected, however, a patient may die of acute metabolic acidosis or may suffer from permanent neural deafness and optic atrophy, with mental and motor handicap. We describe the detection and treatment of 20 cases of biotinidase deficiency in our hospital and recommend the introduction of a neonatal screening programme for this disorder.
authors.affiliation: Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: S
authors.initials: S
authors.lastname: Joshi
authors.forename: M A
authors.initials: MA
authors.lastname: al-Essa
authors.forename: A
authors.initials: A
authors.lastname: Archibald
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
mesh_terms: D000581:Amidohydrolases / Q000502:physiology; D001710:Biotin / Q000627:therapeutic use; D043523:Biotinidase; D028921:Biotinidase Deficiency / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D002423:Cause of Death; D004569:Electroencephalography; D005260:Female; D005470:Fluorometry; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D015997:Neonatal Screening; D012529:Saudi Arabia / Q000453:epidemiology; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase