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Int. J. Neonatal Screen. 2015, 1(1), 45-56; doi:10.3390/ijns1010045

Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate

1
Michigan Department of Community Health, Bureau of Laboratories/Division of Chemistry and Toxicology/Newborn Screening Section, Lansing, MI 48906, USA
2
Genetics Research Laboratory of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA
3
Department of Pathology, Henry Ford Hospital, Detroit, MI 48202, USA
4
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
Current affiliation: Michigan Department of Technology, Management and Budget, Infrastructure and Operations/Technical Services Division, Dimondale, MI 48821, USA
Current affiliation: GeneDx, Gaithersburg, MD 20877, USA
*
Authors to whom correspondence should be addressed.
Academic Editor: Ralph Fingerhut
Received: 17 March 2015 / Revised: 22 May 2015 / Accepted: 14 June 2015 / Published: 19 June 2015
View Full-Text   |   Download PDF [285 KB, uploaded 19 June 2015]   |  

Abstract

Background: Biotinidase deficiency is an inherited metabolic disorder that if untreated can result in neurological and cutaneous features. Profound biotinidase deficiency presents in early childhood with severe symptoms, whereas partial biotinidase deficiency can also present with symptoms under times of stress. Symptoms can be prevented by administering biotin. Newborn screening for the disorder is performed using dried blood spots. We examined the relationship between biotinidase activity and age at collection to determine how best to identify infants with partial biotinidase deficiency. Methods: Biotinidase activity in dried blood spots is determined using a quantitative fluorometric assay. Subsequent specimens with biotinidase activity ≤100 U were analyzed by mutation analysis to determine the range of activities expressed in infants with partial biotinidase deficiency. Results: Enzyme activity increased with age, beginning at about three days of age, and rose until plateauing at about 11 days of age. An increase of about 47.6% was observed. A total of 54 specimens had mutation analysis performed identifying 20 affected infants who would not have been identified using the original cutoff activity of 50 U. Conclusion: Biotinidase activity in infants increases with age. Age-related cutoffs assist in selectively identifying infants with partial biotinidase deficiency. View Full-Text
Keywords: biotinidase deficiency; partial biotinidase deficiency; newborn screening; biotinidase; Fluorometric assay; cutoffs; age-related biotinidase deficiency; partial biotinidase deficiency; newborn screening; biotinidase; Fluorometric assay; cutoffs; age-related
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

VanVleck, N.; Wolf, B.; Seeterlin, M.; Monaghan, K.G.; Stanley, E.; Hawkins, H.; Taffe, B. Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate. Int. J. Neonatal Screen. 2015, 1, 45-56.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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