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2020, Number 3

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Rev Cub Gen 2020; 13 (3)

Results of neonatal diagnosis of Biotinidase deficiency in the province of Guantánamo 2015-2019

Moreno AJA, Pérez RJ, Martínez RA, Bosch GD

Language: Spanish
References: 24
Page: 1-11
PDF size: 570.29 Kb.


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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