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Licensed Unlicensed Requires Authentication Published by De Gruyter August 22, 2016

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

  • Zabedah Md. Yunus EMAIL logo , Salina Abdul Rahman , Yew Sing Choy , Wee Teik Keng and Lock Hock Ngu



The aim of this study was to determine the feasibility of performing newborn screening (NBS) of inborn errors of metabolism (IEMs) using tandem mass spectrometry (TMS) and the impact on its detection rate in Malaysia.


During the study period between June 2006 and December 2008, 30,247 newborns from 11 major public hospitals in Malaysia were screened for 27 inborn errors of amino acid, organic acid and fatty acid metabolism by TMS. Dried blood spot (DBS) samples were collected between 24 h and 7 days with parental consent. Samples with abnormal results were repeated and the babies were recalled to confirm the diagnosis with follow-up testing.


Cut-off values for amino acids and acylcarnitines were established. Eight newborns were confirmed to have IEM: two newborns with Maple syrup urine disease (MSUD), two with methylmalonic aciduria (MMA) one with ethylmalonic aciduria, two with argininosuccinic aciduria and one with isovaleric aciduria. Diagnosis was missed in two newborns. The detection rate of IEMs in this study was one in 2916 newborns. The sensitivity and specificity of TMS were 80% and 99%, respectively.


IEMs are common in Malaysia. NBS of IEMs by TMS is a valuable preventive strategy by enabling the diagnosis and early treatment of IEM before the onset of symptoms aiming at prevention of mental retardation and physical handicap. A number of shortcomings warrant further solution so that in near future NBS for IEMs will become a standard of care for all babies in Malaysia in tandem with the developed world.

Corresponding author: Dr. Zabedah Md. Yunus, MD, MPath, Biochemistry Unit, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia, Phone: 603-26162791, E-mail:


We thank the Director General of Health Malaysia for permission to publish this article. Our special thanks to Dr. Shahnaz Murad (Director of IMR) for approval of the research grant and Dr. Rohani Md Yasin (Centre Head, SDC) for critical reading of the research proposal and valuable comments. We would like to extend our gratitude to all clinicians, nurses and midwives from the 11 participating hospitals for their valuable contributions in this study. Our gratitude also extends to the staff of Newborn Screening Laboratory in Biochemistry Unit, IMR.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted article and approved submission.

  2. Research funding: This study was funded by Research Grant from Institute for Medical Research, Ministry of Health Malaysia (Grant / Award Number: ‘MRG-2006-004’).

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in thestudy design; in the collection, analysis, and interpretationof data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2016-2-11
Accepted: 2016-7-18
Published Online: 2016-8-22
Published in Print: 2016-9-1

©2016 Walter de Gruyter GmbH, Berlin/Boston

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