Genetic counselling. Inborn errors of metabolism

Genetic counselling. Inborn errors of metabolism. Dr. György Fekete. Who needs genetic counselling ?. Congenital malformation (s) Mental retardation Immune deficiency Advanced maternal age Consanguinity Infection, irradiation, mutagen effect during pregnancy

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Approach to Inborn Errors of Metabolism

Approach to Inborn Errors of Metabolism. Andrew M. Ellefson MD Cpt, USA, MC Pgy-2 NCC Pediatrics. Goals for this lecture:. Discuss acute/emergency management of IEMs. Review broad categories of IEMs. Focus on Board favorite zebras.

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Neonatal presentations of Inborn Errors of Metabolism

Neonatal presentations of Inborn Errors of Metabolism. Andrew Morris Royal Manchester Children’s Hospital. Time of presentation. Deterioration after initial period of health At birth In utero. Presentations in utero. Family history - proven or suspected IEM Hydrops fetalis on U/S scan

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Inborn errors of metabolism

Inborn errors of metabolism. By : - Dr. Sanjeev. Phenylketonuria ( PKU ). It is an autosomal recessive (two copies of an abnormal gene ) genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH).

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Emergency Management of Inborn Errors of Metabolism

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INBORN ERRORS OF METABOLISM

INBORN ERRORS OF METABOLISM. 9th International pCRRT Conference on Pediatric Continuous Renal Replacement Therapy August 31-September 2, 2017 Disney’s Yacht & Beach Club Resorts . Lake Buena Vista, Florida. Stefano Picca, MD ISN Educational Ambassador

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Michael Marble, MD Professor of Clinical Pediatrics Division of Clinical Genetics Department of Pediatrics, LSUHSC and Children’s Hospital.

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Robert D. Steiner, MD Associate Professor, Pediatrics and Molecular and Medical Genetics Head: Division of Metabolism OHSU. Inborn Errors of Metabolism. IEM as a group are not rare: occur 1 in 5000 births collectively Often treatable if diagnosed

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Dr B.Vahabi. Lecture outcomes. Understand the general pathophysiology underlying the inborn errors of metabolism (IEMs) Review some important IEMs Understand the genetic inheritance of IEMs Review the general diagnostic methods used for detection of IEMs

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Dr Maha Al- Sulaimani Department of Biochemistry College of Sciences. Inborn Errors of Metabolism. Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism.

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Trisha Garcia. Inborn errors of metabolism (IEMs): group of rare genetic disorders in which a specific enzyme defect interferes with the normal metabolism of protein, fat, or carbohydrate 1 in 4,000 births Mortality is very high for certain IEMs . History

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. An inherent deficiency in a key metabolic pathway resulting in Cellular Intoxication Energy deprivation Mixture of the two. Inborn Errors of Metabolism. IEM as a group are not rare: occur 1 in 5000 births collectively Often treatable if diagnosed

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Inborn Errors Of Metabolism (IEM)

Inborn Errors Of Metabolism (IEM). Introduction. Metabolism : chemical or physical changes undergone by substances in a biological system. Small molecule disease Carbohydrate Protein Lipid Nucleic Acids. Organelle disease Lysosomes Mitochondria Peroxisomes Cytoplasm.

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Inborn errors of metabolism

Phenylketonuria 苯丙酮尿症 Xue Fan Gu, MD, PhD Xinhua Hospital Shanghai Jiao Tong University School of Medicine. Inborn errors of metabolism. Overview Disorders in which defects of single gene cause clinically significant blocks in metabolic pathways Many kinds of disorders Lower incidence

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Inborn errors of Metabolism

Inborn errors of Metabolism. Approach to Diagnosis and management. Defining inborn errors of metabolism. Broad definition: Any defect related to the inappropriate metabolism of substrates essential for an organism’s survival. Defects in energy metabolism

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Inborn Errors of Metabolism

Inborn Errors of Metabolism. Monica Egan. Video Links. Part 1: http://www.youtube.com/watch?v=Zy5MwyjxWwY&feature=plcp Part 2: http://www.youtube.com/watch?v=JZ4sxrg-fKY. Chapter 20 Overview. What to expect from this chapter: Knowledge of Inborn Errors of Metabolism (IEM) Types of IEM

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Inborn Errors of Metabolism

Board Review 11/27/2012. Inborn Errors of Metabolism. Test Question. What topic should we do for December Board Review? Poisonings and Environmental Exposures Substance Abuse. Approach to Metabolic Disorders…. Inborn Errors of Metabolism. Acute Presentation Metabolic crisis

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Approach to Inborn Errors of Metabolism

Approach to Inborn Errors of Metabolism. Dr Yaser A. Mohammad. Why did you choose this topic ?. 2 Cases. 2 yrs old boy KCO Ethylmalonic Aciduria. Presenting with bronchopneumonia & Metabolic crisis. Drowsy, acidotic breathing, tachycardic , BP & SPo2 maintained with O2.

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Inborn Errors of Metabolism(IEM) Lecture 1

Inborn Errors of Metabolism(IEM) Lecture 1. SDK December 18 2012. Objectives. Define Inborn error of metabolism Identify the most common errors Explains the mechanism of Inborn error of metabolism. Explain the dietary plan for IEM. Inborn Errors of Metabolism.

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INBORN ERRORS OF METABOLISM (IEM)

INBORN ERRORS OF METABOLISM (IEM). BY: MOHD AMIRUL FAUZI BIN IBRAHIM. Term describes multiple types of metabolic defects in body, for example: 1) Maple syrup urine disorder (MSUD), 2) urea cycle disorders (UCD) , 3)Mitochondrial disease….. Rare disease Related to SDIS.

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Inborn errors of metabolism

Inborn errors of metabolism. By : - Dr. Sanjeev. Phenylketonuria ( PKU ). It is an autosomal recessive (two copies of an abnormal gene ) genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH).

1.01k views • 56 slides

Metabolic Disorders Inborn Errors Of Metabolism

Metabolic Disorders Inborn Errors Of Metabolism. DR. ABDULLAH ALOMAIR MB ChB, MRCP (Edin), FRCP (Edin.), DCH (Glas.) Associate Professor of Pediatrics Consultant Pediatrician Department of Pediatrics PRESIDENT SAUDI PEDIATRIC ASSOCIATION.

1.04k views • 80 slides