[ English | Bahasa Malaysia ] Today is 29th Sep 2021, 01:34 AM (Last updated: 28th Sep 2021)

Text Red Text Black Text Blue Text Green Text Smaller Text Reset Text Larger

Publication Details
Year :

2012

Journal :

Z Md Yunus, DP Abg Kamaludin, M Mamat, YS Chong and LH Ngu (2012). Biochemical profiles of maple syrup urine disease in Malaysian children. JIMD Reports 5(1): 99-107

Abstract :

Introduction: Maple Syrup Urine Disease (MSUD) is an autosomal recessive disorder caused by defects in the branched-chain α-ketoacid dehydrogenase complex resulting in accumulation of branched-chain amino acids (BCAAs) and corresponding branched-chain ketoacids (BCKAs) in tissues and plasma, which are neurotoxic. Early diagnosis and subsequent nutritional modification management can reduce the morbidity and mortality. Prior to 1990s, the diagnosis of MSUD and other inborn errors of metabolism (IEM) in Malaysia were merely based on clinical suspicion and qualitative one-dimensional thin layer chromatography technique. We have successfully established specific laboratory diagnostic techniques to diagnose MSUD and other IEM. We described here our experience in performing high-risk screening for IEM in Malaysia from 1999 to 2006. We analysed the clinical and biochemical profiles of 25 patients with MSUD.


Methods: A total of 12,728 plasma and urine samples from patients suspected of having IEM were received from physicians all over Malaysia. Plasma amino acids quantitation using fully automated amino acid analyzer and identification of urinary organic acids using Gas Chromatography Mass Spectrometry (GCMS). Patients’ clinical information were obtained from the request forms and case records.


Results: Twenty-five patients were diagnosed MSUD. Nineteen patients (76%) were affected by classical MSUD, whereas six patients had non-classical MSUD. Delayed diagnosis was common among our case series, and 80% of patients had survived with treatment with mild-to-moderate learning difficulties.

 

Conclusion: Our findings suggested that MSUD is not uncommon in Malaysia especially among the Malay and early laboratory diagnosis is crucial.

myGOV MAMPU JPA IKU MSC NMMR CRC MyHEALTH MOH Globinmed SPA krste.my

Notice

Logo-SIRIM-n-UKAS-IMR

IMR is a SIRIM accredited organisation (certificate number 2972).

This site is best viewed on Firefox (24.0) with resolution higher than 1280 x 768 pixels.

Our Location

world

Located at Jalan Pahang, 50588 Kuala Lumpur, Malaysia. We operate from 8.00am - 5.00pm Monday - Friday. Click on the map image to launch Google Maps service.

Get in touch with us