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INBORN ERROR OF METABOLISM

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INBORN ERROR OF METABOLISM DR.FAYZA ALSINY. WHEN TO SUSPECT ? HOW DO Pt. PRESENT One week old new borne brought to ER ... – PowerPoint PPT presentation

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Title: INBORN ERROR OF METABOLISM


1
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2
INBORN ERROR OF METABOLISM
  • DR.FAYZA ALSINY.

3
  • WHEN TO SUSPECT ?

4
HOW DO Pt. PRESENT
  • One week old new borne brought to ER because of
    poor feeding, shortness of breath for 2 days, and
    abnormal movement today.

5
IEM,SUSPICION
  • Symptoms Signs are common, non specific .
  • Acute illness following period of normalcy.
  • Lethargycoma.
  • Hypotonia seizures.
  • Apnea or resp.destress.
  • Sepsis (E.coli).

6
IEM,EVALUATION
  • 5 STEPS
  • 1.History. FHx, consangunity
  • 2.Physical examination.
  • -dysmorphism
  • -cataract
  • -brain anomaly
  • -cardiomyopathy

7
IEM,EVALUATION,CONT
  • Ph. Ex.
  • -jaundice
  • -organomegaly
  • -myopathy
  • -unusual odor
  • -FTT

8
IEM,EVALUATION,CONT
  • 3.Initial screening test
  • -CBC
  • -UE
  • -ABG
  • -Glucose
  • -LFT

9
IEM,EVALUATION,CONT
  • screening test
  • -Ammonia
  • -Lactate/Pyruvate
  • -Tandem MS
  • -a a chromatography

10
IEM,EVALUATION,CONT
  • screening test
  • -Urine analysis
    (PH,RS)
  • -U.organic acid
  • NB.
  • ALL TESTS SHOULD BE DONE DURING ILLNESS

11
IEM,EVALUATION,CONT
  • 4.Advanced screening test
  • -carnitin
  • -lysosomal enzyms
  • -17-oHlas deficiency
  • ..etc.

12
IEM,EVALUATION,CONT
  • 5.Definitive diagnostic tests
  • -sp. Enzyme analys
  • -tissue biopsy
  • -DNA analysis

13
IEM.
14
IEM
15
IEM,CATEIGORY
  • I- PROTEIN
  • ORGANIC ACIDEMIA ?MSUD
  • AMINOACIDOPATHY ?PKU .
  • UREA CYCLE DEFECT ? citrulinemia

16
IEM, CATEIGORY, cont
  • II-LIPIDS
  • LYSOSOMAL---gtGaucher,
  • Niemann-Pick dis.
  • Tay-Sachs dis.

17
IEM, CATEIGORY, cont
  • III- CARBOHYDRATES
  • -GLYCOGEN---gtGSD (liver , muscle).
  • -GALACTOSE---gtGalactosimea.
  • - FRUCTOSE---gtFructose intolerance.


18
MANAGEMENT OF IEM
  • Basic principles for treatment
  • 1.Prevent catabolism-gtcalories.
  • 2.Limit intake-gtdiet.
  • 3.Increase excretion of toxic metabolites.
  • 4.Increase enzyme activity-gtVit. Cofactor.
  • 5.Gene therapy ?

19
WOW ,It is EASY!
20
?????? ????? ?????? ???? ?? ?? ??? ??? ????
??????? ????? ???? .
21
THANK YOU
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