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Strengthen the Evidence for Maternal and Child Health Programs

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Items in this list may be obtained from the sources cited. Contact information reflects the most current data about the source that has been provided to the MCH Digital Library.

Displaying records 1 through 1 (1 total).

Pass K. 1989. Pilot Screening for Biotinidase Deficiency in Newborns [Final report]. Albany, NY: New York State Department of Health, 37 pp.

Annotation: The goal of this study was to evaluate screening for biotinidase deficiency for incorporation into the panel of newborn screening tests in New York State. It was recommended that Biotinidase deficiency demonstrates many of the requisites for inclusion in a newborn screening program for reasons including the assay is suitable for high-volume screening; the rate of false positives is low; no false negatives were identified; the frequency of biotinidase deficiency is within the frequency range of disorders in current screening programs; cases of biotinidase deficiency were identified in the three largest ethnic categories of the population; treatment and followup are simple, inexpensive, and effective; early intervention can prevent irreversible clinical sequelae which would otherwise lead to lifetime disability or early death. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB89-230817.

Keywords: Biotinidase Deficiency, Colorimetric Testing, Hypothyroidism, Metabolic Disorders, Neonatal Screening, Newborns, Phenylketonuria (PKU)
   

This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant number U02MC31613, MCH Advanced Education Policy, $3.5 M. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.