1.what Is Meant By An Inborn Error Of Metabolism
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Health TopicsDrugs & SupplementsVideos & Tools EspaƱol You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this page: //medlineplus.gov/ency/article/002438.htm Inborn inborn error of metabolism symptoms errors of metabolism To use the sharing features on this page, please inborn error of metabolism examples enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food inborn error of metabolism ppt 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 not broken down into inborn error of metabolism list 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 tests can identify some of these
Inborn Error Of Metabolism Diagnosis
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. 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 distin
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slideshowsWatch and learn about your health Symptom CheckerHelp diagnose common conditions MyHealthCheck and improve your health Clinical TrialsApply for a http://patient.info/doctor/inborn-errors-of-metabolism-an-introduction 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 inborn error 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 inborn error of Metabolism - an Introduction 683 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.683 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 from Saudi Arabia.[3]NEW - log yo