PPT-INBORN ERROR

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. Instincts are described as a fear that will guide you away from danger and tha t your sense of happiness will bring you good fortune Many books suggest that we acquire knowledge without thinking or reasoning There is little science to back up the id : Inborn Errors of Metabolism infancy, not with a specific laboratory abnormality, but with organomegaly, facial Peroxisomal disorders, Zellweger syndrome and neonatal adrenoleukodystrophy) result fro of interaction that we use to influence and respond to the world around us. All toddlers are busy, but the spirited child is much busier. If you care for a spirited child you will have more Errors in measurements. Errors which can be eliminated. Errors which can’t be eliminated. 1. Calamitous or catastrophic error. 2. Alignment error. 3. Errors due to ambient conditions . 4. Errors due to elastic deformation. 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. Research shows . that . New Zealand ranked ninth (. last!. ) in workplace health and safety performance for the 2005-2008 period out of nine OECD countries, with:. 102 fatalities per . annum . . Suman Jana. 1. , . Yuan Kang. 1. , Samuel Roth. 2. , Baishakhi Ray. 3. 1. Columbia University. 2. Ohio Northern University. 3. University of Virginia. Incorrect error handling. : a major source. . of. Suman Jana. 1. , . Yuan Kang. 1. , Samuel Roth. 2. , Baishakhi Ray. 3. 1. Columbia University. 2. Ohio Northern University. 3. University of Virginia. Incorrect error handling. : a major source. . of. Introduction. All transmitted signals will contain some rate of error (>0%). Popular error control methods include:. Parity bits (add a 1 or 0 to the end of each seven bits). Longitudinal redundancy checking (LRC). 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. Introduction. All transmitted signals will contain some rate of error (>0%). Popular error control methods include:. Parity bits (add a 1 or 0 to the end of each seven bits). Longitudinal redundancy checking (LRC). 20V 53 15, 2016DITORIALHowever, most follow-up studies in patients withmotor and speech problems. Additionally, almost allwith premature ovarian failure causing hyper-gonadotropic hypogonadism [11]. 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 .