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  • Biotinidase deficiency: a treatable genetic disorder in the Saudi population / Joshi, S.;Al Essa, M.A.;Archibald, A.;Ozand, P.T.
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Biotinidase deficiency: a treatable genetic disorder in the Saudi population / Joshi, S.;Al Essa, M.A.;Archibald, A.;Ozand, P.T.

Tác giả : Joshi, S.;Al Essa, M.A.;Archibald, A.;Ozand, P.T.

Năm xuất bản : 1999

Chủ đề : 1. Amidohydrolases. 2. Biotin. 3. Biotinidase. 4. Biotinidase Deficiency. 5. Cause of Death. 6. Electroencephalography. 7. Genes, Recessive. 8. Infant, Newborn. 9. Tomography, X-Ray Computed. 10. Treatment Outcome.

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1213-1217 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
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https://iris.who.int/handle/10665/118821