Concept Of Inborn Error Of Metabolism
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Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this page: //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To use the sharing features on inborn error of metabolism symptoms this page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders inborn error of metabolism examples in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes)
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that help break down (metabolize) parts of food. A food product that is not broken down into energy can build up in the body and cause a wide range of symptoms. Several inborn errors of
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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 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 inborn error of metabolism diagnosis 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. Update 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 quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). The information provided herein should not be used during any medical emergency or for the di
D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate
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conversion of various substances (substrates) into others (products). In most of the disorders, inborn error of metabolism definition problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects an inborn error of metabolism is caused by of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn error of metabolism was coined by https://medlineplus.gov/ency/article/002438.htm a British physician, Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.[1] Contents 1 Classification 2 Signs and symptoms 3 Diagnosis 4 Treatment 5 Epidemiology 6 References 7 External links Classification[edit] Traditionally the inherited metabolic https://en.wikipedia.org/wiki/Inborn_error_of_metabolism diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories. Disorders of carbohydrate metabolism E.g., glycogen storage disease Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects E.g., Carbamoyl phosphate synthetase I deficiency Disorders of organic acid metabolism (organic acidurias) E.g., alcaptonuria, 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation and mitochondrial metabolism E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.) Disorders of porphyrin metabolism E.g., acute intermittent porphyria Disorders of purine or pyrimidine metabolism E.g., Lesch-Nyhan syndrome Disorders of steroid metabolism E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia Disorders of mitochondrial function E.g., Kearns-Sayre syndrome Disorders of peroxisomal function E.g., Zellweger syndrome Lysosomal storage disorders E.g., Gaucher's disease E.g., Niemann Pick disease Signs and symptoms[edit] Because of the enormous number of these diseases and wide ra
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to log out of Medscape. If you log out, http://emedicine.medscape.com/article/804757-overview you will be required to enter your username and password the next http://patient.info/doctor/inborn-errors-of-metabolism-an-introduction time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctb3ZlcnZpZXc= processing.... Inborn Errors of Metabolism Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD more... Overview Presentation DDx Workup Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print inborn error the entire contents of Background Pathophysiology Epidemiology Show All Tables References Background Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Diagnosis does not require extensive knowledge of biochemical pathways or individual metabolic diseases. An understanding of inborn error of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis. A high index of suspicion is most important in making the diagnosis. For patients with suspected or known inborn errors of metabolism, successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization. Asymptomatic neonates with newborn screening results positive for an inborn error of metabolism may require emergent evaluation including confirmatory testing, and as appropriate, initiation of disease-specific management. Next Pathophysiology Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, fats, or complex molecules. Most are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block, intermediates from alternative metabolic pathways, defects in energy production and use caused by a deficiency of products beyond the block, or a combination of these metabolic deviations. Nearly every metabolic disease has several forms that vary in age of onset, clinical severity, and, often
slideshowsWatch and learn about your health Symptom CheckerHelp diagnose common conditions MyHealthCheck and improve your health Clinical TrialsApply for a trial near you Decision AidsHelp choosing the right treatmentMedicines Search health information A B C D E F G H I J K L M N O P Q R S T U V W X Y ZProfessional Reference Search professional reference A B C D E F G H I J K L M N O P Q R S T U V W X Y ZBrowse clinical guidelines PatientPro CompleteCreate a reflective diary, track the pages you read and get ads free experience Medical Calculators Articles for medical students New leaflets and updates Decision AidsForumsDirectoryBlogsPatient Access Sign in RegisterWelcome to PatientRegisterPatient AccessPatient- MyHealth- Forums- PatientPro|Sign inPatient AccessPatient- MyHealth- Forums- PatientProMyHealth | Blogs | Shop | Symptom checker Search Patient Home Professional Reference Inborn Errors of Metabolism - an IntroductionInborn Errors of Metabolism - an Introduction 681 Users are discussing this topic Article Related Support Discuss Print PDF Email Bookmark Bookmarked Remove? CancelYou must be signed in to bookmark pagesView All NotesCancelYou must be signed into your pro account to make notes Listen On this pageEpidemiologyPresentationClassificationManagementPreventionReferencesPatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.681 See also: Glycogen Storage Disorders written for patientsInborn errors of metabolism (IEMs) comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting in either accumulation of substrate behind the block or deficiency of the product.IEMs are defined by:Their clinical features.Specific enzyme affected.Their pattern of inheritance.EpidemiologyThe incidence is 40 cases/100,000 live births in a Canadian study.[1]A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK.[2]This is attributed to the effect of ethnicity and consanguinity in the local population. Likewise a high incidence of 150 cases per 100,000 live births has been reported fr