PPT-GLYCOGEN STORAGE DISEASE

Dr Elio Quesada Gonzalez Consultant Pediatrician PRESENTATION OUTLINE DEFINATION EPIDEMIOLOGY HISTORICAL PERSPECTIVE CLASSIFICATION TYPES CLINICAL PRESENTATION INVESTIGATION MANAGEMENT DEFINATION. DR AMINA TARIQ. BIOCHEMISTRY. Polysaccharides. 2 types: . HOMO polysaccharides. (all 1 type of monomer) . glycogen, starch, cellulose, chitin . HETERO polysaccharides . (different types of monomers). C483 Spring 2013. 1. Why . does glycolysis produce more energy (more ATP) from glucose units released by glycogen degradation than from free glucose?. A) Limit dextrin contains additional molecules.. MLAB 2401: Clinical Chemistry. Keri Brophy-Martinez. Introduction. 2. Organisms rely on the oxidation of complex organic compounds to obtain energy. Three general types of compounds provide chemical energy to our cells. Pratt and . Cornely. Chapter 19. Regulation by Compartmentalization. Form of reciprocal regulation. Degradation vs biosynthesis. Requires transporters. Specialization of organs. Fuel Storage. Fuel Usage: About 7000 kJ/day minimum. 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. Insulin Signaling and Glycogen Synthesis. Glycogen. Primary energy storage carbohydrate in animals. Primary backbone has . a. 1 .  4 linkages and secondary . a. 1 6 linkages. Creates many ends of the molecule allowing for the fast release of glucose for energy conversion. Regulation of . Glycogenolysis. Figure modified from . Yan, A., et al (2016) In J . Biol. . Sci. 12(12):1544-1554. and . Servier. Medical Art. GDP. cAMP. Protein Kinase A. (PKA). PKA. Regulation of . 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 ( 1 Metabolism of Carbohydrates Diseases Associated with Glycogen Degradation Paper : 04 Metabolism of carbohydrates Module : 28 Diseases Associated with Glycogen Degradation Dr. Ramesh Kothari, 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 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). 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: .