Most Common Inborn Error Of
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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 errors of metabolism To use the sharing inborn errors of metabolism chart features on this page, please enable JavaScript. Inborn errors of metabolism are rare
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genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects
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in specific proteins (enzymes) 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
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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 disorders.Registered dietitians and other health care providers can help create a diet that is right for each specific disorder.Alternative Names inborn errors of metabolism pdf 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 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).
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to inborn errors of amino acid metabolism log out of Medscape. If you log out, you will inborn errors of metabolism treatment be required to enter your username and password the next time you visit. Log out approach to inborn errors of metabolism 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 https://medlineplus.gov/ency/article/002438.htm Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print 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 http://emedicine.medscape.com/article/804757-overview 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 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
Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript http://pediatrics.aappublications.org/content/102/6/e69 AAP Policy & Collections Alerts Subscribe aap.org Advertising Disclaimer » PediatricsDecember 1998, VOLUME 102 / ISSUE 6 Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis Barbara K. Burton Article Figures & Data Info & Metrics Comments Download PDF AbstractRecent advances in the diagnosis and treatment of inborn inborn error errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this inborn errors of review. Indications for specific laboratory studies are discussed. Guidelines are provided for the stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment.Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particular