inborn error of metabolism

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a defect or mistake in structure or function.
inborn error of metabolism a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth, as in phenylketonuria, or in later life.
measurement error the difference between what exists in reality and what is measured by a measurement method.
Type I error the rejection of a null hypothesis that is true.
Type II error acceptance of a null hypothesis that is false.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

in·born er·ror of me·tab·o·lism

a group of disorders, each of which involves a disorder of a single unique enzyme, genetic in origin and operating from birth; effects are ascribable to accumulation of the substrate on which the enzyme normally acts (for example, phenylketonuria), to deficiency of the product of the enzyme (for example, albinism), or to forcing metabolism through an auxiliary pathway (for example, oxaluria).
Farlex Partner Medical Dictionary © Farlex 2012

inborn error of metabolism

Any of the expanding group, now in the hundreds, of inherited metabolic and biochemical disorders, that are divisible into those affecting
1. Small molecules–eg, simple sugars, amino or organic acids, that often have an acute onset in infancy/childhood;.
2. Large molecules–eg, ↑ in 'storage diseases'–eg, mucopolysaccharidoses and glycogen storage diseases that affect older children
Inborn errors of metabolism consequences  
Loss of certain molecules–eg, albinism–defect of tyrosinase or Ehlers-Danlos disease–defect of lysyl-hydroxylase or others of a vast array of enzymes
Accumulation of normal metabolites–eg, alkaptonuria–defect of homogentisic acid oxidase or galactosemia–defect of galactose-1-phosphate uridyl transferase
Transport defects–eg, cystinuria–dibasic amino acids or intestinal disaccharidase deficiency
Defects in erythrocyte metabolism–eg, glucose-6-phosphate dehydrogenase deficiency
Pigment defects–eg, acute intermittent porphyria
Defects in mineral metabolism–eg, Wilson's disease
Vitamin defects–eg, vitamin D-dependent rickets
Defects in intestinal absorption–eg, cystic fibrosis
Other defects of unknown origin–eg, achondroplasia  
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

inborn error of metabolism

an inherited biochemical abnormality in humans due to enzymic deficiencies. The term was coined by Archibald GARROD in the early 1900s, who theorized that various conditions he had studied in hospital cases were due to defective enzymes, causing the breakdown of biochemical pathways and the build-up of intermediate chemicals in the body. Garrod's work was not recognized as important until the ONE GENE/ONE ENZYME HYPOTHESIS was proposed in the 1940s.
Collins Dictionary of Biology, 3rd ed. © W. G. Hale, V. A. Saunders, J. P. Margham 2005

Inborn error of metabolism

A rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions. Inborn errors of metabolism can cause brain damage and mental retardation if left untreated. Phenylketonuria is an inborn error of metabolism.
Mentioned in: Mental Retardation
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.
Detection of inborn errors of metabolism using tandem mass spectrometry in Omani high-risk patients.
However, in our evaluated sample, there was a preponderance of various errors of metabolism as a cause for chronic liver diseases, including storage disorders: glycogen and lipid storage disorders, in addition to errors of aminoacids and fatty acid metabolism.
Innovations in analyte detection and microsample analysis will continue to offer options for identifying risk for many disorders outside the traditional realm of inborn errors of metabolism. Our experience with the first major technical advance, tandem mass spectrometry, has educated us on many of the perils as well as benefits of its clinical application.
Since then, much of the progress in the field--also called stem cell transplantation--has been paved by investigations in five categories of pediatric conditions: congenital immunodeficiency syndromes, malignancies, bone marrow failure syndromes, hemoglobinopathies, and inborn errors of metabolism.
Keywords: Inborn errors of metabolism, Methylmalonic acidaemia, Mitochondriopathy, Non-ketotic hyperglycinaemia, Fructose 1, 6 diphosphatase deficiency.
The British physician, Sir Archibald Garrodis entitled as father of "inborn errors of metabolism" for his pioneering work in revealing the biochemical basis of alkaptonuria in the early 20th century [1].
We believe all babies born in every state in this nation should be screened using state of the art Tandem Mass Spectronomy to identify all known inborn errors of metabolism at birth so appropriate intervention therapies can begin immediately ...
Clinical Manual for Inborn Errors of Metabolism 250 750
Topics include using stable isotope tagging and mass spectrometry to characterize protein complexes and to detect changes in their composition, stable isotope labeling by amino acids in cell culture for quantitative proteomics, quantification of proteins and metabolites without isotopic labeling, an isotope coding strategy for proteomics involving both amine and carboxyl group labeling, tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening, computational analysis of quantitative proteomics data using stable isotope labeling, and quantitative proteomic analysis of phosphotyrosine-mediated cellular signaling networks.