Assignments For Inborn Errors of Metabolism (DR - DR Damayanti R.Sjarif, SpA (K) [PDF]

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Pre Lecture Assignments for Inborn Errors of Metabolism Dr dr Damayanti Rusli Sjarif SpA(K) 1. The answers paper should be collected after the lecture 2. Everybody should be preparing 10 minutes power-point presentation about the answers (presenter will be appointed randomly before the lecture) 3. You could used all sources of metabolic diseases for answering these questions and should mentioned it in the paper and presentation , Examples of sources : Levy PA. Inborn errors of metabolism: part 1: overview. Pediatr Rev. 2009;30(4):131–138. doi:10.1542/pir.30-4-131 Inborn Errors of Metabolism (Metabolic Disorders) Gregory M. Rice and Robert D. Steiner,Pediatrics in Review January 2016, 37 (1) 3-17; DOI: https://doi.org/10.1542/pir.2014-0122 Jeanmonod R, Jeanmonod D. Inborn Errors Of Metabolism. [Updated 2020 Jan 9]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459183/ Review Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics by Israa T Ismail 1,2, Megan R Showalter 2 and Oliver Fiehn 2 Metabolites 2019, 9(10), 242; https://doi.org/10.3390/metabo9100242 http://www.ssiem.org/docs/syllabus/Training_Clinical_Syllabus_2006.pdf http://www.emedicine.com/PED/topic2416.htm http://www.emedicine.com/ped/topic1057.htm



Questions: 1. What is the definition of metabolism ? 2. What is the meaning of inborn errors of metabolism (IEM) ? 3. Please mention the complete classification of IEM according to SSIEM Syllabus ? Please explained the pathogenesis of



1. “mousy” odor from sweat and urine; light skin; and mental retardation



in phenylketonuria (PKU) 2. Coarse facies in lysosomal storage diseases Please explained 1. the characteristic of hypoglycemia in glycogen storage diseases (GSD) type I ? 2. the pathogenesis of hyperuricemia, hypertriglyceridemia, hyperlactatemia in GSD ? 3. The kinds of IEM which are presenting with hyperammonemia ?