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INBORN ERRORS OF METABOLISM (IEM)

INBORN ERRORS OF METABOLISM (IEM). 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.

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INBORN ERRORS OF METABOLISM (IEM)

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  1. INBORN ERRORS OF METABOLISM (IEM) BY: MOHD AMIRUL FAUZI BIN IBRAHIM

  2. 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 OVERVIEW ‘inborn’ – onset is much prominent for newborns and infant, but several cases persist unnoticed until adulthood

  3. 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 CAUSES

  4. 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. SYMPTOMS

  5. 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 IEM IN MALAYSIA

  6. DEVELOPMENT OF DIAGNOSTICAL METHODS 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

  7. 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 TREATMENT

  8. SOCIETY and RESPONSIBLE BODIES • 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

  9. LINKS 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 

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