INBORN ERROR OF METABOLISM

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INBORN ERROR OF METABOLISM

• DR.FAYZA ALSINY.

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• WHEN TO SUSPECT ?

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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.

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IEM,SUSPICION

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

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IEM,EVALUATION

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

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IEM,EVALUATION,CONT

• Ph. Ex.
• -jaundice
  
• -organomegaly
• -myopathy
• -unusual odor
• -FTT
  

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IEM,EVALUATION,CONT

• 3.Initial screening test
• -CBC
• -UE
• -ABG
• -Glucose
• -LFT

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IEM,EVALUATION,CONT

• screening test
• -Ammonia
• -Lactate/Pyruvate
• -Tandem MS
• -a a chromatography
  

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IEM,EVALUATION,CONT

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

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IEM,EVALUATION,CONT

• 4.Advanced screening test
• -carnitin
• -lysosomal enzyms
• -17-oHlas deficiency
• ..etc.

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IEM,EVALUATION,CONT

• 5.Definitive diagnostic tests
• -sp. Enzyme analys
• -tissue biopsy
• -DNA analysis

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IEM.
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IEM
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IEM,CATEIGORY

• I- PROTEIN
• ORGANIC ACIDEMIA ?MSUD
• AMINOACIDOPATHY ?PKU .
• UREA CYCLE DEFECT ? citrulinemia

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IEM, CATEIGORY, cont

• II-LIPIDS
• LYSOSOMAL---gtGaucher,
• Niemann-Pick dis.
• Tay-Sachs dis.

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IEM, CATEIGORY, cont

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

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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 ?

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WOW ,It is EASY!
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THANK YOU