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Inborn Error Of Metabolism Definition

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Inborn errors of metabolism To use the sharing features on this inborn errors of metabolism made easy page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot

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properly turn food 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 inborn errors of metabolism pdf not broken down into 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 inborn errors of amino acid metabolism 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 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 an

D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are

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due to defects of single genes that code for enzymes inborn errors of metabolism screening tests that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems

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arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors https://medlineplus.gov/ency/article/002438.htm of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn error of metabolism was coined by 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 https://en.wikipedia.org/wiki/Inborn_error_of_metabolism 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 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 dehy

Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy & Collections Alerts Subscribe aap.org Advertising Disclaimer » http://pediatrics.aappublications.org/content/102/6/e69 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 errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing inborn error 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 are discussed. Guidelines are provided for the stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit inborn errors of 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 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 cardiomyo

 

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