Inborn Error Of Metabolism Diseases
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Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this page: inborn errors of metabolism made easy //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To use the sharing features on this
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page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot
Inborn Error Of Amino Acid Metabolism
properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. A food product that is
Inborn Errors Of Metabolism Chart
not broken down into energy can build up in the body and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled. There are many different types of inborn errors of metabolism. A few of them are:Fructose intoleranceGalactosemiaMaple sugar urine disease (MSUD)Phenylketonuria (PKU) Newborn screening inborn errors of metabolism ppt tests can identify some of these disorders.Registered dietitians and other health care providers can help create a diet that is right for each specific disorder.Alternative Names Metabolism - inborn errors ofImages Galactosemia References Bodamer OA. Approach to inborn errors of metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 205.Rezvani I, Rezvani G. An approach to inborn errors of metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 78. Review Date 4/20/2015 Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Metabolic Disorders Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of qual
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter inborn errors of metabolism treatment your username and password the next time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctY2xpbmljYWw= inborn errors of metabolism pdf processing.... Inborn Errors of MetabolismClinical Presentation Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD more... inborn errors of protein metabolism Overview Presentation DDx Workup Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print the entire contents of History Physical Causes Show All https://medlineplus.gov/ency/article/002438.htm Tables References History The history varies with age at presentation and is a function of the age at which various inborn errors of metabolism (IEMs) manifest clinically. The patient’s history may include the following: Symptoms that range from abrupt in onset and episodic to chronic and progressive Poor feeding, vomiting, failure to thrive, lethargy Developmental delay, sometimes with loss of milestones Onset of symptoms with change http://emedicine.medscape.com/article/804757-clinical in diet and unusual dietary preferences, particularly protein or carbohydrate aversion Decompensation out of proportion to what would be expected from intercurrent infection Similar findings of unexplained neonatal or sudden infant deaths in siblings or maternal male relatives (A negative family history does not rule out IEM.) Possible parental consanguinity (increases the likelihood of autosomal recessive IEM) Neonate Consider an inborn error of metabolism (IEM) in any critically ill neonate. Frequently, the most important clue is a history of deterioration, often life-threatening, after an initial period of apparent good health ranging from hours to weeks, usually following an uncomplicated pregnancy and delivery in a term infant. In term infants without risk for sepsis who develop the symptoms of sepsis, metabolic disease may be nearly as common as sepsis. A negative newborn screen result does not exclude diagnosis of metabolic disease. Nearly all states and many countries test newborns for a core set of 29 diseases, and many test for more than 50 diseases, most of which are IEMs using tandem mass spectrometry. Tests screened for by each state are provided by the National Newborn Screening and Genetics Resource Center (see National Newborn Screening Statu
Check Chromosomal Abnormalities Traditional Mendelian Inheritance Patterns Nontraditional Mendelian Inheritance Patterns Inborn Errors of Metabolism Aminoacidopathies Disorders of fatty acid oxidation Lysosomal https://www.utmb.edu/pedi_ed/CORE/MedicalGenetics/page_24.htm Storage Disorders Teratogens Prenatal Diagnosis Quick Check Newborn Screening Resources and http://patient.info/doctor/inborn-errors-of-metabolism-an-introduction References Inborn Errors of Metabolism Biochemical pathways play an integral and essential part in the proper functioning of the human body. Defects in the production, breakdown or transport of a specific enzyme or protein can have deleterious consequences. Ultimately, disorders resulting from inborn errors of inborn error metabolism (IEM) are caused by the deficiency of a particular enzyme, and/or the accumulation of abnormal metabolites. IEMs can be categorized as follows: Disorders of protein metabolism: Organic acidopathies, amino acidopathies, urea cycle defects Disorders of carbohydrate metabolism: Galactosemia, glycogen storage disorders Disorders of fatty acid oxidation: Medium-chain acyl CoA dehydrogenase (MCAD) deficiency Mitochondrial disorders Lysosomal inborn errors of disorders: Hurler syndrome, Hunter syndrome, Tay-Sachs Peroxisomal disorders: Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD) Many inborn errors of metabolism will manifest symptoms in the newborn period, including the organic acidemias, the urea cycle defects, and certain disorders of amino acid metabolism. Features suggestive of IEM in the newborn period include: Lethargy Vomiting Breathing problems - apnea or tachypnea Failure to thrive Jaundice Seizures Common Screening Tests: Lactate/Pyruvate Ammonia Arterial blood gas Blood glucose Plasma amino acids Urine organic acids Urine ketones Plasma acyl-carnitine profile The majority of IEM are inherited in an autosomal recessive manner; although there are a few that have X-linked recessive inheritance. Examples of IEMs with X-linked recessive inheritance: Ornithine transcarbamylase (OTC) deficiency - urea cycle defect Hunter syndrome - lysosomal storage disorder X-linked adrenoleukodystrophy (X-ALD) - peroxisomal disorder Some of the more common IEMs are discussed below. Neena Champaigne MD; formerly of Dept, of Pediatrics, University of Texas Medical Branch; now at Greenwood Genetic Center, Greenwood, SC. Core Concepts of Pediatrics (c) 2008
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