Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening

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Genetics in medicine : official journal of the American College of Medical Genetics


PURPOSE: We began screening newborns for biotinidase deficiency disorder in 1984, and now all states in the United States and many countries perform this screening. The purpose of this study was to determine the outcomes of older adolescent and adult individuals with the disorder identified by newborn screening.

SUBJECTS AND METHODS: We located and surveyed, by questionnaire and telephone interviews, 44 individuals with profound biotinidase deficiency identified by newborn screening with a mean age of 23.1 years.

RESULTS: All individuals had successfully completed high school, and many were attending or had completed college or graduate school. Compliance in using biotin has been excellent. Several individuals developed a variety of symptoms when they discontinued biotin for days or weeks. These features readily resolved when biotin was resumed. In addition, five treated women had nine uneventful pregnancies and deliveries.

CONCLUSIONS: Newborn screening for profound biotinidase deficiency and early treatment with biotin result in excellent outcomes for older adolescents and adults with the disorder. In addition, mothers with profound biotinidase deficiency who were treated with biotin had pregnancies with good outcomes. These outcome results indicate that newborn screening for biotinidase deficiency is one of the most successful newborn screening programs.Genet Med 19 4, 396-402.

Medical Subject Headings

Adolescent; Adult; Biotin; Biotinidase Deficiency; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Surveys and Questionnaires; Treatment Outcome; Young Adult

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