Objectives of Biochemistry Unit

Objective

Biochemistry Unit play an important role in development of new diagnostic methods and provision of specialised diagnostics services in particular for Inborn Error of Metabolism (IEM). In line of IMR core function, the Unit conducts research projects in the field of IEM and related diseases where one of the objectives is determining the incidence of various types of IEM in Malaysian Children. Being the reference centre for IEM, the Unit provides consultation services, technology transfer and training on IEM and Biochemical Genetic Testing.

Activities

1. Set up and evaluate new diagnostic methods for diagnosis of IEM.
2. Process, analysed, interpret and produce report for all clinical samples received for Biochemical Genetic Testing.
3. Perform internal quality control activities and participates in External Quality Control program for all the tests offered.
4. Conduct various CME and training for the staff and other Ministry of Health Hospital laboratories' personnel, as well as Master and Bachelor students from local Universities
5. Conducting workshops on method validations, principles and usage of various chromatographic equipments.

Achievements

1. Developed and set up more than 25 types of Biochemical Genetic Testing and become the Referral Laboratory for Diagnosis of IEM by providing confirmatory testing for:
   • Amino acids disorders
   • Organic acids disorders
   • Carbohydrate disorders
   • Peroxisomal diseases
   • Lysosomal storage diseases
   • Fatty acid oxidation defects
2. Setting up Rapid screening of IEM in dried blood spot using Tandem Mass Spectrometry (TMS)
   • Method development for rapid screening using TMS
   • Establishment of reference ranges and cut-off values
   • An estimate of prevalence and incidence of IEM in newborn in Malaysia
   • Logistic and feasibility of newborn screening programme.
   • Newborn and high risk babies screening test to screen/identify amino acid disorders,organic acid disorders and fatty acid oxidation defects using Tandem Mass Spectrometry (LCMS/MS)
3. Setting up screening test and enzyme assay for Lysosomal Storage Disorders;
   • Mucopolysaccharidosis (MPS)
   • Oligosaccharidosis
   • Fabry disease
   • Pompe disease
   • Gaucher disease
   • Krabbe disease
   • Niemann-Pick disease

Research Thrust

"7th Malaysia Plan"

1. Method development and evaluation for amino acids analysis and organic acids analysis for diagnosis of amino acids disorders and organic acidurias by reverse-phase HPLC and Gas Chromatography Mass Spectrometry (GCMS).
2. Method development for other biochemical genetic testing such as determination of total and free carnitine, total homocysteine,urine orotic acids and screening for mucopolysaccharidosis.

"8th Malaysia Plan"

1. Screening for newborn and high risk babies for amino acid disorders, organic acid disorders and fatty acid oxidation defects in dried blood spot using Tandem Mass Spectrometry (LC MS/MS).
2. Method development and validation for Amino Acid analysis using ion-exchange and fully automated amino acid analyser
3. Laboratory diagnosis of peroxisomal disorders by setting up method for detection of Very Long chain fatty acids and Phytanic acid
4. Method development of total galactose and Galactose-1 uridyl transferase assays and High Resolution Electrophoresis (HRE) for diagnosis of MPS

"9th Malaysia Plan"

1. Method development of screening for Lysosomal Storage Disorders using dried blood spot by Tandem Mass Spectrometry (LC MS/MS).
2. Method development of screening for biotinidase deficiency,Gaucher, Pompe and Fabry disease using dried blood spot and enzyme assay.
3. Method development for confirmatory test - enzyme assay for Lysosomal Storage Disorders using leucocytes and plasma for Fabry, Pompe and MPS.

Consultancies

The Unit provides consultation services to the following:-

1. Public and private hospitals from all over Malaysia for diagnosis of Inborn Errors of Metabolism (IEM) especially on the type of test, sample collection/transport and interpretation of results
2. College of Medical Laboratory Technologist on the Post-basic Course for Chemical Pathology.
3. Ministry of Health's National Committee for Genetic Services
4. Department of Standards Malaysia (DSM) as Lead and Technical Assessor and Medical Expert Panel, ISO 15189.
5. Local Universities on Master of Biomedical Science and Master of Pathology courses.

Training provided

The Biochemistry unit provides the following:

1. Technology and knowledge transfer on biochemical genetic testing to the laboratory personnel from other hospitals/ institutions.
2. Training in laboratory medicine/techniques for Master of Science (Biochemistry and Biomedical Science) and industrial training for Bachelor students from Universities.
3. Training in Inborn Error of metabolism and Biochemical genetic testing for Master of Pathology from local Universities

Links

1. http://metagene.de/program/d.prg
2. http://www.ncbi.nlm.nih.gov/Omim/mimstats.html
3. http://biochemgen.ucsd.edu/

Downloadable Forms

1. IEM Request Form
2. Newborn Screening Form (Private Hospitals)