PPT-Lysosomal Storage Disorders

Maryam Banikazemi MD Associate Prof of Pediatric and Genetics New York Medical College amp Shahid Beheshti University Overview of clinical amp Diagnostic Approaches to Inherited Metabolic Disorders. Also its possible for otherwise healthy people to develop severe illness so any one concerned about their illness should consult their doctor There are emergency warning signs that should signal anyone to seek medical care urgently Emergency Warning Courtesy of Jay M Haynie OD 2 With permission of HodderArnold Publishers 3 Courtesy of Desnick et al 2003 with permission from author and publisher 4 Reproduced with permission from Kleta et al Mayo Clin Proc 200479410412 5 Courtesy of John A Moran By. . SOMESHWAR.K. M.PHARM.. II - SEMESTER . . . Department of Pharmaceutics. University College of Pharmaceutical Sciences,. KAKATIYA UNIVERSITY. Undernutrition. 61/2 m/o ex 34 WGA twins with:. FTT. Severe Global Developmental Delay. Hypertonia. Oculomotor. findings. Reflux. Intermittent Diarrhea. HSM. h/o . neutropenia. and thrombocytopenia. (Golgi apparatus and vesicular transport). Dr. Mamoun Ahram. Faculty of Medicine. Second year, Second semester, 2014-2014. Principles of Genetics and Molecular Biology. Functions of Golgi. Further protein processing and modification. Gartenbauwissenschaft, 66 ISSN 0016 2ability rates of the LDPE films to each gasaveraged 38 and 70 at 0C and 95As the respiration rate of the fruit was af-and 164 at 20C respectivelyfected more by temperature than by theThese levels rep DSM-IV lists 10 separate personality disorders, with an average prevalence of 1-2%. Three clusters: anxious-fearful, odd-eccentric, and dramatic-impulsive. Concern:. . Categorical vs. Dimensional (DSM-V)?. Screen. R. A. . Heidenreich. , MD. Professor of Pediatrics. Division of Pediatric Genetics. The University of . New Mexico. 0. Expansion of Testing. Historically, the blood was tested for accumulated products of abnormal metabolites. Lysosomal Storage Disorders. Dysostosis/Dysmorphic. MPS. Mucolipidoses. GM1 gangliosidosis. Galactosialidosis. Morquio B. Alpha-Mannosidosis. Fucosidosis. Aspartylglucosaminuria. “MPS-like” DISORDERS. (1992) 35:991-995 in plasma lysosomal enzymes in Type 1 (insulin-dependent) diabetes mellitus: relationship to diabetic complications and glycaemic control J. Waters 1 , M. D. Flynn 2, R. J. M. Corra . 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.. molecole. . EXTRACELLULARI. Funzioni. . dei. . lisosomi. . (. Proteasoma. . degrada. le . proteine. . citosoliche. ) . Funzioni dei lisosomi. (Proteasoma degrada le proteine citosoliche . INTRACELLULARI. M. ARK . C. HALKLEY – . 3. rd. . Y. EAR . A. NATOMIC . P. ATHOLOGY . R. ESIDENT. History & Signalment. Similar history and . signalment. for both case #1. . and #2: . - Both between 1 or 2-years old male DSH cats.