PPT-Inborn Errors of Metabolism: Perspectives from Metabolic Physician, Paediatric Intensivist

8 th International Conference Paediatric Continuous Renal Replacement Therapy London 18 th July Dr Mike Champion Department of Inherited Metabolic Disease Evelina London Childrens Hospital. : Inborn Errors of Metabolism infancy, not with a specific laboratory abnormality, but with organomegaly, facial Peroxisomal disorders, Zellweger syndrome and neonatal adrenoleukodystrophy) result fro 1 Usual presentation of inborn error of metabolismHealthy at birth .Decomposition occurring within days or weeks of birth. 2 Signs and Symptoms of Metabolic DiseaseFailure to thrive (weight below the (Renal Block). Biochemistry of:. Phenylketonuria (PKU). Maple Syrup Urine Disease (MSUD). Albinism. Homocyteinuria. Alkaptonuria. 1 Lecture Dr. . Ahmed H. . Mujamammi. Inborn Errors of aa Metabolism. Dr Anissa Atif Mirza. What is Metabolism?. Metabolism is a . network of metabolic /biochemical reactions.. Carried out in living cells.. In a. well organized, integrated and regulated manner.. Related to various biomolecules viz. What you should learn:-. The difference between . Anabolic. and . Catabolic. metabolic pathways, and give examples of each.. The importance of . reversible, irreversible . and . alternative. pathways in the control of metabolism.. STEFANO PICCA, MD. Dialysis Unit- Dept . of Nephrology and Urology. “Bambino Gesù” Pediatric Research Hospital. ROMA, Italy. Variables in toxic agents elimination. Exogenous . toxicity: . Experience with toxic agents in PICU. METABOLIC ASSESSMENT. TYPES OF CLINICAL . PRESENTATION OF . INBORN ERRORS. Toxic . Presentation. Severe Neonatal . Hyperammonemia. Moderate Neonatal . Hyperammonemia. Clinical . Hyperammonemia. in Later . zamil. INBORN ERRORS OF METABOLISM. 23/12/2020. Outlines : . Definition: . genetic disorders that cause disruption of a metabolic pathway. Disease. accumulation of a toxic . . substrate proximal to the metabolic block . Intermediary Metabolism. OR. Interrelationship Between Various Metabolic . Pathways. OR. Interdependence Of Metabolic Pathways. To Better Understand Metabolism Of Various Biomolecules . Metabolism of each . 1 A Disorder s (ICIMD) Carlos R. Ferreira 1 *, Shamima Rahman 2 ,3 , Johannes Zschocke 4 *, ICIMD advisory group 1 National Human Genome Research Institute, National Institutes of Health, Bethesda, R E V I E WR E V I E WR E V I E WR E V I E WR E V I E WAAAAARRRRRTTTTTIIIIICCC heterogeneous group of disorders with multi-organmanifestations, including the heart. Although theyare individually rare Dr. . Zohreh. Mazloom. Shiraz University of Medical Sciences. School of Nutrition and Food Sciences Department of Clinical Nutrition. 1. Learning Objectives. General . metabolic disorders . The . resulting nutritional . NTD 208. MISS TALABI J.Y. DEPARTMENT OF HUMAN NUTRITION AND DIETETICS. COLLEGE OF MEDICINE AND HEALTH SCIENCES. AFE BABALOLA UNIVERSITY ADO-EKITI. INTRODUCTION. Energy is the capacity to do work. Energy exists in a number of forms. . 1. Important. .. Extra Information.. Doctors slides. 436 Biochemistry team. One day or day one you decide ... By the end of this lecture the students will be able to:. • Identify the amino acid degradation and synthesis of non-essential amino acids..