INBORN ERROR OF METABOLISM DR FAYZA ALSINY 11212020
INBORN ERROR OF METABOLISM DR. FAYZA ALSINY. 11/21/2020 2
o. WHEN TO SUSPECT ? 11/21/2020 3
HOW DO Pt. PRESENT o One week old new borne brought to ER because of poor feeding, shortness of breath for 2 days, and abnormal movement today. 11/21/2020 4
IEM, SUSPICION o Symptoms & Signs are common, non specific. o Acute illness following period of normalcy. o Lethargy&coma. o Hypotonia & seizures. o Apnea or resp. destress. o Sepsis (E. coli). 11/21/2020 5
IEM, EVALUATION 5 STEPS: 1. History. FHx, consangunity 2. Physical examination. -dysmorphism -cataract -brain anomaly -cardiomyopathy 11/21/2020 6
IEM, EVALUATION, CONT; o Ph. Ex. -jaundice -organomegaly -myopathy -unusual odor -FTT 11/21/2020 7
IEM, EVALUATION, CONT; 3. Initial screening test: -CBC -U&E -ABG -Glucose -LFT 11/21/2020 8
IEM, EVALUATION, CONT; o screening test: -Ammonia -Lactate/Pyruvate -Tandem MS -a a chromatography 11/21/2020 9
IEM, EVALUATION, CONT; o screening test: -Urine analysis (PH, RS) -U. organic acid NB. ALL TESTS SHOULD BE DONE DURING ILLNESS 11/21/2020 10
IEM, EVALUATION, CONT 4. Advanced screening test: -carnitin -lysosomal enzyms -17 -o. Hlas deficiency ………. . etc. 11/21/2020 11
IEM, EVALUATION, CONT 5. Definitive diagnostic tests: -sp. Enzyme analys -tissue biopsy -DNA analysis 11/21/2020 12
IEM. Poor feeding Lethargy Vomiting Convulsion coma METABOLIC 11/21/2020 INFECTION 13
IEM Plasma ammonia HIGH NORMAL PH PH NORMAL (UREA CYCL) ACIDOSIS (ORGANIC ACIDEMIA) 11/21/2020 NORMAL (A A CIDOPATHY) ACIDOSIS ( ORGANIC ACIDEMIA 14
IEM, CATEIGORY I- PROTEIN: ORGANIC ACIDEMIA MSUD AMINOACIDOPATHY PKU. UREA CYCLE DEFECT citrulinemia 11/21/2020 15
IEM, CATEIGORY, cont; II-LIPIDS: LYSOSOMAL--->Gaucher, Niemann-Pick dis. Tay-Sachs dis. 11/21/2020 16
IEM, CATEIGORY, cont; III- CARBOHYDRATES: -GLYCOGEN--->GSD (liver , muscle). -GALACTOSE--->Galactosimea. - FRUCTOSE--->Fructose intolerance. 11/21/2020 17
MANAGEMENT OF IEM o Basic principles for treatment : 1. Prevent catabolism->calories. 2. Limit intake->diet. 3. Increase excretion of toxic metabolites. 4. Increase enzyme activity->Vit. Cofactor. 5. Gene therapy ‼ 11/21/2020 18
WOW , It is EASY! 11/21/2020 19
THANK YOU 11/21/2020 21
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