Results of neonatal diagnosis of Biotinidase deficiency in the province of Guantánamo 2015-2019
Keywords:
biotinidase, biotin, newborn.Abstract
Introduction: Biotinidase deficiency is an autosomal recessive disorder. It is classified according to the activity of the enzyme in partial deficiency and in profound deficiency. Objectives: Describe the results of the National Diagnostic Program for Biotinidase Deficiency in Guantanamo during the period 2015-2019.
Methods: Across-sectional descriptive observational study was carried out. From a universe of 32 606 patients born in Guantánamo in the period 2015-2019. 48 cases that previously tested positive in the Biotinidase Neonatal Screening Program were analyzed. The spectrophotometric method described by Wolf was used to confirm the disease.
Results: During the five-year period studied, three children were diagnosed with total deficiency and two with partial biotinidase deficiency with an incidence of 0,9:10000 and 0,6:10000 respectively.
Conclusions: With the National Biotinidase Deficiency Program in the period of 2015-2019, 5 cases were identified in the province of Guantanamo, which allows counseling to the family on the genetic nature of the entity, recurrence of the disorder in other members, the risk for next pregnancies as well as guidelines for the follow-up of the affected individual.
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1-Hsu, R. H., Chien, Y. H., Hwu, W. L., Chang, I. F., Ho, H. C., Chou, S. P., Lee, N. C. (2019). Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. Orphanet journal of rare diseases, 14(1), 1-6.
2-Küry, S., Ramaekers, V., Bézieau, S., Wolf, B. (2016). Clinical utility gene card for: biotinidase deficiency update 2015. European Journal of Human Genetics, 24(7), 3-5.
3-Porta, F., Pagliardini, V., Celestino, I., Pavanello, E., Pagliardini, S. Guardamagna, O., Spada, M. (2017). Neonatal screening for biotinidase deficiency: a 30-year single center experience. Molecular Genetics and Metabolism Reports, 13, 80-82.
4-Deschamps, R., Savatovsky, J., Vignal, C., Fisselier, M., Imbard, A., Wolf, B. (2018). Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. Journal of Neurology, Neurosurgery & Psychiatry, 89(9), 1009-1010.
5- Ferreira, P., Chan, A., & Wolf, B. (2017). Irreversibility of symptoms with biotin therapy in an adult with profound biotinidase deficiency. In JIMD Reports, Volume 36 (pp. 117-120). Springer, Berlin, Heidelberg.
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