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Biochemistry Unit| Introduction | Research | Diagnostic Services |
Biochemistry Division started as Chemistry Division in 1900 where some biochemical and toxicological investigations were carried out. After most of the toxicological investigations were taken over by Chemistry Department, Chemistry Division ceased to exist and Biochemistry Division was created in 1950. Other biochemical tests such as protein electrophoresis, serum iron and most of the routine biochemical tests such as enzymes and hormonal assays were rapidly established, to cater for the need of clinicians in the 70’s.
The eighties saw the Division further reinforcing its efforts in upgrading of methods used, incorporating automation in diagnostic biochemistries and expanding its range of specialised diagnostic services with the establishment of Protein Reference Laboratory for investigations of protein dyscrasias and the National Reference Drug Detection Laboratory for drugs of abuse. Effort was also made to establish a national external quality assessment scheme (EQAS) for the common biochemical tests, which was called Malaysia EQAS Clin Chem.
In the 90’s, much of the routine diagnostic service were decentralised with the rapid growth of peripheral laboratories and automation. Activities were then concentrated mainly on 6 major thrust areas, namely:
- Protein and Molecular Biology;
- Drugs and Clinical Toxicology;
- Inborn Error of Metabolism;
- Environmental Toxicology.
- General Biochemistry testing in support of research
- National external quality assessment scheme (EQAS)
A dedicated analyser for biogenic amines based on HPLC technique was obtained for analysis of metabolites of catecholamines in investigating neuroblastoma and pheochromocytoma. The laborious manual method previously employed for urinary VMA measurement has since been replaced with the use of this analytical system, which is more specific and accurate.
With the reorganization of IMR in April 2001, Biochemistry Division was later divided into Specialised Diagnostic Centre and Herbal Medicine Research Centre, and Biochemistry now is one of the two units under Specialised Diagnostic Centre.
Our main activities now are providing method development and setting up of new diagnostic capabilities and establishment of methods in analytical biochemistry especially for inborn error of metabolism and other genetic diseases; continuation of national external quality assessment scheme (EQAS) and providing general biochemistry testing in support of research activities.
CENTER FOR DIAGNOSIS OF INBORN ERROR OF METABOLISM (IEM)
Biochemistry Unit play an important role in providing specialised diagnostics services for IEM, where it is currently the only laboratory in Malaysia which is able to provide biochemical genetic testing for screening and confirmation of this diseases.
Thin Layer Chromatography method as a screening tools for amino acids disorders was established in the 80’s and was further refined in the 90’s. Funds obtained under “Dasar Baru” programme in 7 th Malaysian Plan enabled the purchase of High Performance Liquid Chromatography (Reverse-phase HPLC) for separation, identification and quantitation of amino acids, where diagnosis of amino acids disorders such as Maple Syrup Urine Disease and Urea Cycle Defects were made possible. The Gas Chromatography method for determination of organic acids in investigating organic acidurias was successfully developed and this was followed with establishment of GCMS method which is more sensitive to detect elevations of characteristic metabolites essential for diagnosis of organic acidurias.
Another “Dasar Baru” programme were approved under the 8 th Malaysian Plan where Tandem Mass Spectrometry were purchased for the multianalytes screening of IEM from neonatal dried blood spot. This will enable the Unit to provide fast and reliable method for screening which is crucial for early diagnosis and prompt treatment of IEM.
Under the same fund, advancement in the methodology for amino acids quantitation from reverse-phase HPLC to that of fully automated ion-exchange amino acids analyser was achieved which now enable the detection of more amino acids and minimises the use of manpower.
To further strengthen the diagnostic capabilities in IEM, the Unit has vigorously developed and evaluati methods of other biochemical genetic testing such as:
- Total and free carnitine in plasma
- Total homocysteine in plasma;
- Mucopolysaccharidosis screening and confirmation test in urine,
- Total galactose and Galactose-1 uridyl transferase assays (GALT)
- Urine orotic acids by HPLC, GCMS and TMS
- Acyl carnitine and amino acids detection using MS/MS
- Biotinidase assay
- Oligosaccharidosis screening in urine.
- Chitotriosidase assay for screening Lysosomal Storage Diseases
- Purine and pyrimidine detection by HPLC
- Urine succinylacetone by GCMS and TMS
- Very Long Chain Fatty Acids by GC and GCMS
- Phytanic Acids by GC and GCMS
- Pipecolic acids for screening of Bile acids disorders.
| Introduction | Research | Diagnostic Services |