inborn errors of metabolism


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in·born er·rors of me·tab·o·lism

(īn'bōrn er'ŏrz mĕ-tab'ŏ-lizm)
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 (e.g., phenylketonuria), to deficiency of the product of the enzyme (e.g., albinism), or to forced metabolism through an auxiliary pathway (e.g., oxaluria).

inborn errors of metabolism

Genetic defects that interfere with the normal biochemical processes of the body. The term was coined in 1908 Sir Archibald Garrod (1857–1936) to describe the inherited diseases ALKAPTONURIA, ALBINISM, CYSTINURIA, and PENTOSURIA. Many other such conditions are now known and their genetic mechanism understood. All metabolic processes are mediated by enzymes and these are coded for by genes. When a gene mutation results in the absence or defect of one or more of these enzymes, inborn errors of metabolism result.
References in periodicals archive ?
Awareness of good food practices, proper understanding of food labels and ingredients and regular monitoring can help in a long way in keeping Inborn Errors of Metabolism controlled and improving quality of life.
From the history, investigations and clinical presentation the infant can be said to be a case of inborn errors of metabolism of lipoproteins, glycine and carnitine.
In addition to an active research and discovery pipeline across both therapeutic areas, Agios has multiple first-in-class programs in cancer metabolism and inborn errors of metabolism advancing toward the clinic.
A total of 1100 patients were referred and investigated for inborn errors of metabolism during a period of 10 years (1998-2008).
Detection and treatment of inborn errors of metabolism and some congenital diseases through neonatal screening would reduce mental and physical retardation and thus allay the pain and misery of the community in general and of the individuals in particular.
In 1974, Teruo Kitagawa developed a mass-screening system for inborn errors of metabolism in the Tokyo Metropolitan Area in collaboration with the Tokyo Obstetrician Association and Tokyo Health Service Association.
Congenital malformations and inborn errors of metabolism account for a significant cause of neonatal and infant morbidity and mortality.
Neurological symptoms are commonly the presenting problem in many inborn errors of metabolism (IEM).
9), the first relation between a genetic defect and a biochemical abnormality was reported in the study of the human disease alkaptonuria by Archibald Garrod in his book Inborn Errors of Metabolism (1909).
Tandem Mass Spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.
The future is bright for the Vitaflo business, its staff and Liverpool as a centre of excellence for the development of products for inborn errors of metabolism and disease related malnutrition.
Inborn errors of metabolism in which acyl-CoA esters accumulate are associated with increased acylcarnitine concentrations in tissues and blood, and greatly increased urinary excretion of acylcarnitines.