An Inborn Error Of Metabolism
Contents |
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
An Inborn Error Of Metabolism Is Caused By
features on this page, please enable JavaScript. Inborn errors of metabolism are rare an inborn error of metabolism that causes premature destruction of rbc genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in definition of inborn errors of metabolism 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
Inborn Error Of Metabolism List
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 Error Of Metabolism Diseases
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, 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 i
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like inborn error of metabolism diagnosis to log out of Medscape. If you log out, you
Inborn Error Of Metabolism Symptoms
will be required to enter your username and password the next time you visit. Log out inborn error of metabolism examples 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 https://medlineplus.gov/ency/article/002438.htm 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 errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period http://emedicine.medscape.com/article/804757-overview 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 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. Eff
Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy http://pediatrics.aappublications.org/content/102/6/e69 & Collections Alerts Subscribe aap.org Advertising Disclaimer » PediatricsDecember 1998, VOLUME 102 / ISSUE 6 Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis Barbara https://www.britannica.com/science/inborn-error-of-metabolism K. Burton Article Figures & Data Info & Metrics Comments Download PDF AbstractRecent advances in the diagnosis and treatment of inborn errors of metabolism have inborn error 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 review. Indications for specific laboratory studies inborn error of 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, particularly in a full-term infant with no specific risk factors.Hypoglycemia may be th
glycogen storage disease porphyria familial hypercholesterolemia Francis Collins hemochromatosis Alexander Gordon Bearn cystic fibrosis (CF) cystinosis Inborn error of metabolism, any of multiple rare disorders that are caused by an inherited genetic defect and that alter the body’s ability to derive energy from nutrients. The term inborn error of metabolism was introduced in 1908 by British physician Sir Archibald Garrod, who postulated that inherited disorders such as alkaptonuria and albinism result from reduced activity or complete absence of enzymes involved in certain biochemical pathways. Garrod’s identification and categorization of inborn errors of metabolism represented an important conceptual advance in 20th-century medical genetics.The overall estimated incidence of inborn errors of metabolism is approximately 1 in every 4,000 live births. However, incidence can vary within populations, depending on factors such as ethnic background.Underlying causes and patterns of inheritanceThe metabolic diseases that result from inborn defects involve different aspects of human metabolism, including the handling of amino acids, lipids, carbohydrates, and nucleic acids. In most instances the underlying cause is the inheritance of a mutated enzyme, the normal function of which is the metabolic transformation of one metabolite into another, or of a mutated transport protein, the normal function of which is to assist in the movement of a compound across a cell membrane.Inheritance of inborn errors of metabolism usually conforms to an autosomal recessive pattern (two copies of the mutant gene, one from each parent, must be inherited to produce the signs and symptoms of disease). In some cases, however, inheritance may be dominant (only one copy of the mutated gene is needed) or sex-linked (the mutated gene is carried on a sex [X or Y] chromosome).Symptoms and effects on the brainAlthough certain inborn errors of metabolism are apparent at or shortly after birth, others may not become obvious until early childhood. Certain symptoms vary according to the specific disorder, but, in general, affected individuals have a poor app