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BY: MOHD AMIRUL FAUZI BIN IBRAHIM Term describes multiple types of metabolic defects in body, for example: 1) Maple syrup urine disorder (MSUD), 2) urea cycle disorders (UCD) , 3)Mitochondrial disease….. Rare disease Related to SDIS. Defects in gene that produce enzyme, causing metabolic activity to be blocked. Hereditary – carrier gene ‘inborn’ – onset is much prominent for newborns and infant, but several cases persist unnoticed until adulthood Block in pathway, will cause toxic accumulation of substrate, Intermediate from alternative pathway Defects in energy production Each metabolic disease is unique – age of onset, severity, how it is inherited Categories: 1) disorders resulting toxic accumulation, 2) disorders of energy production Depends on what type of disease Generally: vomiting, lethargy, drowsiness Developmental delay Newborn – jaundice, physical appearance similar to sepsis Organomegaly Myopathy – muscle weakness Visual and hearing problem Tendency of avoiding certain types of food. In United States, 1: 4000 live births In Malaysia there is no adequate information to make estimates. Number of patients registered: around 1000 (one hospital) Public awareness is still lacking Misdiagnose from physician Parents who are taking lightly about health problems Simple tests – DPNH, ferric chloride Thin layer chromatography – only 10 amino acids (sample sent abroad) Reverse phase HPLC and GC-MS, more sensitive in detecting metabolic changes Fully automated ion-exchange analyzer – detects more amino acids, while minimalizing manual work TANDEM MASS SPECTROMETRY – newest, ability for screening before birth Currently, no cure Early diagnosis help prevent fatality (TMS – 3 drops of blood) Prevention, so that the condition is stable Administration of medication to lower toxic substance Patient need to have specific diet regime, close watch on metabolic rate. Regular checkup with IEM specialist Unwavering support from family and friends • Malaysia Rare Disorder Society http://www.mrds.org.my/ • Malaysia Metabolic Society http://mms.my/index.php • Institute of Medical Research http://www.imr.gov.my/sdc.html http://emedicine.medscape.com/article/804757-overview http://en.wikipedia.org/wiki/Inborn_error_of_metabolism http://en.wikipedia.org/wiki/Tandem_mass_spectrometry http://www.moh.gov.my/images/gallery/publications/mh/Malaysia%20Health %202007-2.pdf http://www.mrds.org.my/FactSheets/P5_IEM.pdf Thank you for your attention