Inborn Error Metabolism Disorder
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features on this page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in inborn errors of metabolism pdf which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
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A food product that is 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 inborn errors of amino acid metabolism 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 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
D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.
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The majority are due to defects of single genes that
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code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most inborn errors of metabolism treatment of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability https://medlineplus.gov/ency/article/002438.htm to synthesize essential compounds. Inborn errors 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, https://en.wikipedia.org/wiki/Inborn_error_of_metabolism based on his studies on the nature and inheritance 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 acid
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 inborn errors of 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 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