PPT-NON-RENAL INDICATIONS: INTOXICATIONS & INBORN ERRORS 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. : Inborn Errors of Metabolism infancy, not with a specific laboratory abnormality, but with organomegaly, facial Peroxisomal disorders, Zellweger syndrome and neonatal adrenoleukodystrophy) result fro Genetics. October 25, 2010. Major . vs. Minor Anomalies. Major: functional significance. Polydactyly. , . colobomas. , . meningomyelocele. , cleft lip. Incidence 1%. Minor: cosmetic significance. Epicanthal. 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. OF. METABOLISM. Wilson Ching Cua. DPPS FPSPME. OBJECTIVES. Describe the concepts of inborn error of metabolism. Describe the common clinical signs of inborn error of metabolism. Describe the common clinical approach in the treatment of inborn error of metabolism. Barbara Lynne Phillips, M.D.. Assistant Professor of Neurology. WSU BSOM. Disclosures. Participated in Phase II and III trials of . lacosamide. No other disclosures. Anticonvulsants. Mainstay of treatment. 8. th. International Conference. Paediatric Continuous Renal Replacement Therapy. London 18. th. July. Dr Mike Champion. Department of Inherited Metabolic Disease,. Evelina London Children’s Hospital. Barbara Lynne Phillips, M.D.. Assistant Professor of Neurology. WSU BSOM. Disclosures. Participated in Phase II and III trials of . lacosamide. No other disclosures. Anticonvulsants. Mainstay of treatment. 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 . Metabolism . https. ://. www.youtube.com/watch?v=5qjgEKqVkSo . Do all organisms have the same energy needs?. Chemical reactions are divided into what two . categories? . What are two ways organisms can obtain their energy?. 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 . 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..