PPT-Glycogen Storage Diseases:

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. DR AMINA TARIQ. BIOCHEMISTRY. Polysaccharides. 2 types: . HOMO polysaccharides. (all 1 type of monomer) . glycogen, starch, cellulose, chitin . HETERO polysaccharides . (different types of monomers). 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. In muscle the final products of glycogen breakdown depend on the type of muscle fiber.. Red muscle fibers. . many mitochondria and much myoglobin. . Glucose is converted primarily to pyruvate that. Dr. Elio Quesada Gonzalez. Consultant Pediatrician. PRESENTATION OUTLINE. DEFINATION. EPIDEMIOLOGY. HISTORICAL PERSPECTIVE. CLASSIFICATION. TYPES. CLINICAL PRESENTATION. INVESTIGATION. MANAGEMENT.. DEFINATION. 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 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.. Found in liver and skeletal muscles.. Represents 10% of weight of liver and 1-2% of muscles.. Stored in large cytosolic granules.. Elementary particles, . β. -particles consist of 50,000 glucose residues.. 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: .