Next Article in Journal
Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias
Previous Article in Journal
Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening
Article Menu

Export Article

Comment published on 15 March 2016, see Int. J. Neonatal Screen. 2016, 2(1), 1.

Open AccessReview
Int. J. Neonatal Screen. 2015, 1(3), 79-88; https://doi.org/10.3390/ijns1030079

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

Department for Inborn Errors of Metabolism, Dr. von Hauner Children’s Hospital, University of Munich, Lindwurmstr. 4, 80337 Munich, Germany
Academic Editor: Ralph Fingerhut
Received: 30 September 2015 / Revised: 12 November 2015 / Accepted: 18 November 2015 / Published: 23 November 2015
Full-Text   |   PDF [369 KB, uploaded 23 November 2015]

Abstract

With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, neonatal screening for MCADD effectively exemplifies the unexpected challenges of increased diagnosis by screening programs. MS/MS-based screening revealed an at least 2-fold higher incidence than expected with a considerable share of individuals showing mild biochemical alterations and/or novel mutations with unknown clinical significance. Whether these individuals are at lower risk to experience metabolic decompensations is a matter of ongoing debate. Defining patients, stratifying them according to their clinical risk, and adopting treatment protocols is an as yet unmet challenge in neonatal screening for MCADD. View Full-Text
Keywords: medium-chain acyl-CoA dehydrogenase; neonatal screening; newborn screening; tandem mass spectrometry; confirmation of positive screening results medium-chain acyl-CoA dehydrogenase; neonatal screening; newborn screening; tandem mass spectrometry; confirmation of positive screening results
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).
SciFeed

Share & Cite This Article

MDPI and ACS Style

Maier, E.M. Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges. Int. J. Neonatal Screen. 2015, 1, 79-88.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top