Activities of Biochemistry Unit

1. Research

1. Method development and evaluation for detection of amino acids and organic acids in biological fluids – 1998
2. Development of method for detection of mucopolysacchrides in urine by thin layer chromatography – 1999.
3. Enzymatic measurement of total and free Carnitine  using spectrophotometry –1999.
4. Method development and evaluations for Homocysteine using HPLC and ELISA – 1999.
5. Total Galactose and GALT measurement using spectrofluorometer, 2001
6. Glycosaminoglycan measurement using Di Methylmethylene Blue, 2002
7. High resolution electrophoresis for urine glycosaminoglycan- 2003
8. Rapid detection of Argininosuccinic acids for the screening of Argininosuccinase deficiency-2003.
9. Detection of amino acids and acylcarnitines in dried blood spot by Tandem Mass Spectroscopy (LC MS/MS) as a new screening method for Inborn Error of Metabolism -2004.
10. Plasma Chitotriosidase Assay as a screening tool for Lysosomal Storage Disease-2004
11. Analysis of plasma Very Long Chain Fatty Acids and Phytanic Acids as diagnostic marker for peroxisomal disorders-2004
12. Urinary oligosaccharide detection by thin layer chromatography as a screening for Oligosaccharidoses-2004-2008
13. Method Comparison Between Tandem Mass Spectrometry and Amino Acid Analyser For Measurement Of Amino Acids In Serum -2004
14. Method Evaluation for enzymatic analysis of  L-Carnitine in serum-2004
15. Quantitative analysis of galactose in dried blood spot using fluorometric assay as a  screening method for galactosemia-2005
16. Determination of urine orotic acids using HPLC for the diagnosis of Urea cycle defect-2005
17. Citrin Deficiency screened by Tandem Mass Spectrometry using Dried Blood Spots-2006
18. Rapid screening of Inborn Error of Metabolism in neonatal dried blood spot using Tandem Mass Spectrometry-2006-2008
19. Biochemical profiling of purine and pyrimidine disorders-2007-2008
20. Biochemical profiling of galactosemia in Malaysian Children- 2007-2009
21. Development of Biotinidase enzyme assay using in-house reagent and its comparison between the commercial kit-2007-2008
22. Plasma Chitotriosidase assay for screening Gaucher disease-2007-2008
23. Urine succinylacetone detection by GCMS-2007-2008
24. S-sulphocysteine quantitation in urine by HPLC-2007-2008
25. Pipecolic acids for diagnosis of peroxisomal disorders using ion-exchange HPLC -2007-2010
26. Screening of Pompe and Fabry in dried blood spot by enzyme assay-2008-2009
27. Screening of 5 Lysosomal Storage Diseases in dried blood spot using LCMS/MS-2009-2011
28. Delta ALA  quantitation in urine by using ion-exchange HPLC -2009-2010
29. Confirmatory enzyme assays in leucocytes and plasma for diagnosis of Lysosomal Storage Disorders (Fabry, Pompe and MPS)-2010-2012
30. Urinary and CSF Pterin for the diagnosis of pterins disorders and neurotransmitters using HPLC with fluorescence detector-2011
31. Biogenic amines in urine and CSF for the diagnosis of neurotransmitters disorders using HPLC with electrochemical detector-2012.
32. Pipecolic Acid as a marker for Pyridoxine-responsive seizure and Peroxisomal biogenesis disorder-2012
33. Inherited metabolic disease in children with sudden death-2012
34. Urine porphyrins and urine porphobilinogen by column test-2013
35. Phenotype and genotype of Pompe disease in Malaysia children-2013

2. Diagnostic Services

Diagnostic Facilities

Tandem Mass Spectrometry For Rapid IEM Screening

Fully Automated Amino Acid Analyser (Amino Acid Analysis)

Gas Chromatography Mass Spectrometry For Organic Acid Analysis