PPT-GLYCOGEN STORAGE DISEASE

Dr Elio Quesada Gonzalez Consultant Pediatrician PRESENTATION OUTLINE DEFINATION EPIDEMIOLOGY HISTORICAL PERSPECTIVE CLASSIFICATION TYPES CLINICAL PRESENTATION INVESTIGATION MANAGEMENT DEFINATION. Marks. 5 marks. Conducting the experiment. 2 marks. Questions. 15 marks. Report. 13 marks. Quiz. Practical 15. Theoretical. 10. Midterm. Practical 25. Theoretical. 15. Final. Total marks= . 100 marks. Diana Mnatsakanova. Clinical Vignette. HPI/Prolonged hospitalization. 11 . day old full-term neonate . presented from OSH on 7/22/15 for heart transplant evaluation. Born at 39 weeks via elective . c-section. Objectives. Structure of Glycogen. . Anabolism Vs Catabolism mechanisms.. Glycogen storage disorders. . Overview of Glycogen Metabolism. Excess glucose stored as glycogen. Glucose units joined by . α. consists of 34 exons and widely expresses in liver, muscle, kidney, and lymphoblastoid cells []. GDE is a 175-kD monomeric protein containing two independent catalytic domains, amylo-1-6-glucosidase ( ...CARBOHYDRATE-LOADING:A SAFE AND EFFECTIVE METHOD OFIMPROVING ENDURANCE PERFORMANCERichard T. Beeker, M.A.Ed.Richard G. Israel, Ed.D.Richard T. Beeker is an exercise physiologist with Structure Hous Special thanks toShireThe full article and its related educational materialwere produced by and under the sole responsibility of the Working Group on Myocardial and Pericardial Diseases. ESC WORKING G 165 Aasc WcnmprA kajc gldalr uas bmpl ar a ecsrargmlaj aec md 12 uccis alb 1 baws rm amlsalesglcmss napclrs ugrf lm dakgjw fgsrmpw md kcrabmjga mp eclcrga bgscascs, A dcraj sjrpasmlmepanfw ar 2J ucci 1 Metabolism of Carbohydrates Diseases Associated with Glycogen Degradation Paper : 04 Metabolism of carbohydrates Module : 28 Diseases Associated with Glycogen Degradation Dr. Ramesh Kothari, 2018) Vol. 70 (9), Page 1 539 - 1543 1539 Received: 16 /12/2017 DOI: 10.12816/0044680 Accepted: 26 /12/2017 Glycogen Storage Disease in Pediatric Population Yara Mofarih Assiri 1 , Marium Mohammed Vol.10; Issue: 8; August 2020 Webs ite: www.ijhsr.org Case Report ISSN: 2249 - 9571 International Journal of Health Science s and Research (www.ijhsr.org ) 281 Vol.10; Issue . Suud. . khalifa. Diseases caused by mutation in structural proteins:. Marfan"s. syndrome:. . autosomal dominant disease of connective tissue (. fibrillin. ), both quantitative &qualitative defects have been noted.. Lippincot’s. . Ilustrated. reviews: Biochemistry. Glucose Synthesis is Required for Survival. Brain is dependent on glucose 120g/day. Body glucose reserve is limited. ≈ 20 g (extra cellular fluid). Glycogen storage diseases (GSDs) occur when a defective enzyme is involved in a pathway for glycogen storage or degradation.. A micrograph shows an excess of stored glycogen (blue) in a liver biopsy of a patient with Cori’s disease.. 5 marks. Conducting the experiment. 2 marks. Questions. 15 marks. Report. 13 marks. Quiz. Practical 15. Theoretical. 10. Midterm. Practical 25. Theoretical. 15. Final. Total marks= . 100 marks. Mid term date: .