An Inborn Error Of Metabolism Occurs When
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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 inborn errors of metabolism symptoms To use the sharing features on this page, please enable JavaScript. Inborn inborn errors of amino acid metabolism errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The inborn errors of metabolism ppt 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 energy can build up inborn errors of metabolism made easy 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 disorders.Registered dietitians and other health care providers
Inborn Errors Of Metabolism Pdf
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 distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, edi
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1998, VOLUME 102 / ISSUE 6 Inborn Errors of Metabolism in Infancy: inborn errors of metabolism screening tests A Guide to Diagnosis Barbara K. Burton Article Figures & Data Info & Metrics Comments Download PDF AbstractRecent inborn errors of metabolism treatment advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be https://medlineplus.gov/ency/article/002438.htm 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 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 http://pediatrics.aappublications.org/content/102/6/e69 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, particularly in a full-term infant with no specific risk factors.Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. The latter disorders, among the most common encountered, exhibit marked clinical variability and also may present as a sudden death, a Reye's-like episode, or a cardiomyopathy. Jaundice or other evidence
& 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 your http://emedicine.medscape.com/article/804757-overview username and password the next time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctb3ZlcnZpZXc= processing.... http://www.aafp.org/afp/2006/0601/p1981.html 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 the entire contents of Background Pathophysiology Epidemiology Show All Tables References Background inborn error 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 the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis. A inborn errors of 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, mode of inheritance. Categories of inborn errors of metabolism, or IEMs, are as follows: Disorders that result in toxic accumulation Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) Disorders of carbohydrate intolerance Lysosomal storage disorders D
in to get free access. All others: Purchase online access. FREE PREVIEW. Purchase online access to read the full version of this article. TALKAD S. RAGHUVEER, M.D., University of Kansas Medical Center, Kansas City, KansasUTTAM GARG, PH.D., and WILLIAM D. GRAF, M.D., Children's Mercy Hospitals and Clinics, Kansas City, MissouriAm Fam Physician. 2006 Jun 1;73(11):1981-1990. This article exemplifies the AAFP 2006 Annual Clinical Focus on caring for children and adolescents. Abstract Early Diagnosis and Screening in Asymptomatic InfantsEarly Diagnosis in Symptomatic InfantsConsiderations in Older Infants and ChildrenImportance of Early TreatmentLong-term TreatmentReferencesArticle Sections Abstract Early Diagnosis and Screening in Asymptomatic InfantsEarly Diagnosis in Symptomatic InfantsConsiderations in Older Infants and ChildrenImportance of Early TreatmentLong-term TreatmentReferencesRecent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabol