Definition Of Inborn Error Of Metabolism
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D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code inborn error of metabolism symptoms for enzymes that facilitate conversion of various substances (substrates) into others (products). In
Inborn Error Of Metabolism Examples
most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal inborn error of metabolism ppt function, or to the effects of reduced ability 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 List
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 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 inborn error of metabolism diagnosis 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 dehydrogenase deficiency (often shortened to MCADD.) Disorders of porphyrin metabolism E.g., acute intermittent porphyria Disorders of purine or pyrimidine metabolism E.g., Lesch-Nyhan syndrome Disorders of steroid metabolism E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia Disorders of mitochondrial function E.g., Kearns-Sayre syndrome Disorders of peroxisomal function E.g., Zellweger syndrome Lysosomal storage diso
D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for
Inborn Error Of Metabolism Review
enzymes that facilitate conversion of various substances (substrates) into others (products). In most
An Inborn Error Of Metabolism Is Caused By
of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, an inborn error of metabolism that causes premature destruction of rbc or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn https://en.wikipedia.org/wiki/Inborn_error_of_metabolism 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 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 https://en.wikipedia.org/wiki/Inborn_error_of_metabolism 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 dehydrogenase deficiency (often shortened to MCADD.) Disorders of porphyrin metabolism E.g., acute intermittent porphyria Disorders of purine or pyrimidine metabolism E.g., Lesch-Nyhan syndrome Disorders of steroid metabolism E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia Disorders of mitochondrial function E.g., Kearns-Sayre syndrome Disorders of peroxisomal function E.g., Zellweger syndrome Lysosomal storage disorders E.g., Gaucher's disease E.g., Niemann
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to log http://emedicine.medscape.com/article/804757-overview out of Medscape. If you log out, you will be required http://www.dictionary.com/browse/inborn-error-of-metabolism to enter your username and password the next time you visit. Log out 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 Treatment Medication inborn error 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 but can occur at inborn error of 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 to toxic accumulations of substrates before the block, intermediate
irregardless a word? Favorite Button CITE Translate Facebook Share Twitter Tweet Google+ Share inborn error of metabolism inborn error of metabolism in Medicine Expand inborn error of metabolism n. Any of a group of congenital disorders caused by an inherited defect in a single specific enzyme that results in a disruption or abnormality in a specific metabolic pathway. The American Heritage® Stedman's Medical DictionaryCopyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company. Cite This Source Discover our greatest slideshows 8 Offbeat Literary Genres to Get... Decode the pieces of our favorite... Know These 9 Commonly Confused... Uncover the mysteries of the marks... Browse more topics on our blog What Is the Difference Between Discreet and Discrete? Learn the correct uses of these two commonly confused homophones. What Character Was Removed from the Alphabet? What mistaken pronunciation gave this character its name? Apostrophes 101 This small mark has two primary uses: to signify possession or omitted letters. How Do I Get a Word into the Dictionary? People invent new words all the time, but which ones actually make it? Word of the Day Word Value for inborn 8 11 Scrabble Words With Friends Nearby words for inborn error of metabolism inbetweenness inboard inboard-outboard inbond inborn inborn error of metabolism inbound inbounds inbounds line inbox inbreathe Pokémon Words About Terms & Privacy ©2016 Dictionary.com, LLC.