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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2013

Open Access 01-12-2013 | Technical advance

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

Authors: Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien

Published in: BMC Medical Genetics | Issue 1/2013

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Abstract

Background

Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for several inborn errors, including citrin deficiency (screened by citrulline level) and carnitine uptake defect (CUD, screened by free carnitine level), is not satisfactory. This study was conducted to determine whether a second-tier molecular test could improve the sensitivity of citrin deficiency and CUD detection without increasing the false-positive rate.

Methods

Three mutations in the SLC25A13 gene (for citrin deficiency) and one mutation in the SLC22A5 gene (for CUD) were analyzed in newborns who demonstrated an inconclusive primary screening result (with levels between the screening and diagnostic cutoffs).

Results

The results revealed that 314 of 46 699 newborns received a second-tier test for citrin deficiency, and two patients were identified; 206 of 30 237 newborns received a second-tier testing for CUD, and one patient was identified. No patients were identified using the diagnostic cutoffs. Although the incidences for citrin deficiency (1:23 350) and CUD (1:30 000) detected by screening are still lower than the incidences calculated from the mutation carrier rates, the second-tier molecular test increases the sensitivity of newborn screening for citrin deficiency and CUD without increasing the false-positive rate.

Conclusions

Utilizing a molecular second-tier test for citrin deficiency and carnitine transporter deficiency is feasible.
Appendix
Available only for authorised users
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Metadata
Title
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Authors
Li-Yun Wang
Nien-I Chen
Pin-Wen Chen
Shu-Chuan Chiang
Wuh-Liang Hwu
Ni-Chung Lee
Yin-Hsiu Chien
Publication date
01-12-2013
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2013
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-14-24

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