Transcript INBORN ERROR OF METABOLISM

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 