Neonatal screening for biotinidase deficiency
DOI:
https://doi.org/10.1590/S0034-89101998000200007Keywords:
Biotina, PrevalenceAbstract
INTRODUCTION: Biotinidase deficiency is an inheritable disorder of biotin metabolism. This disorder fulfills major criteria for consideration for newborn screening: the affected children do not show clinical signs in the newborn period; the disease is highly disabling; treatment is effective in preventing neurological sequelae if undertaken promptly. MATERIAL AND METHODS: Screening of 125,000 infants born in Paraná State was carried out to establish the prevalence of biotinidase deficiency. A simple colorimetric procedure was used to detect two infants with biotinidase deficiency (1:62,500), one of them with profound deficiency (1:125,000) and the other with partial deficiency (1:125,000) of the enzyme. RESULTS: There were no known false-negative test results and 0.12% were false-positive, defined by further blood samples which were negative upon repeated testing. Sensitivity was 100% and specificity was 99.88%. Repeat blood samples could not be obtained in 63 (30%) suspected cases. CONCLUSIONS: Newborn screening for biotinidase is useful in identifying affected children, is inexpensive and allows early intervention, which may prevent irreversible neurological damage.Downloads
Published
1998-04-01
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Section
Original Articles
How to Cite
Pinto, A. L. R., Raymond, K. M., Bruck, I., & Antoniuk, S. A. (1998). Neonatal screening for biotinidase deficiency . Revista De Saúde Pública, 32(2), 148-152. https://doi.org/10.1590/S0034-89101998000200007