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 ?
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.
Although many inborn errors of metabolism (IEMs) present in the first few months of life, it is estimated that as many as 50% of patients with an IEM present after the first year of life and into late childhood or the teen years (1).
Two inborn errors of metabolism, phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency, account for the majority of cases of HPA.
He details the neuropathologic basis, neurology, symptoms, prognosis, assessment, and treatment of these disorders resulting from conditions that cause damage to the brain in childhood, including traumatic brain injury, cerebrovascular accidents, and brain tumors, as well as less common disorders caused by cerebral anoxia, inborn errors of metabolism, neural tube defects, infections, radiation induced brain damage, and convulsive disorders.
The New York Times had the following to say, "His prodigious works in the field of inborn errors of metabolism are broadly referenced to this day in the medical literature .
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.
Woo of Baylor College of Medicine in Houston reports that in work on phenylketonuria (PKU), the "granddaddy" of inborn errors of metabolism, he and his colleagues have developed a family-based analysis and used it to perform the first prenatal diagnosis of PKU.
Agios has multiple first-in-class programs in cancer metabolism and inborn errors of metabolism advancing toward the clinic, in addition to an active research and discovery pipeline across both therapeutic areas.
Its portfolio of nutrition solutions, diagnostics, devices and drugs, targets a number of health areas, such as inborn errors of metabolism, pediatric and acute care, obesity care, healthy ageing, and gastrointestinal and brain health.
The past 23 years of cord blood stem cells transplantations showed that cord blood can successfully be preserved without losses in vitality and functionality; it is an efficient source of stem cells to treat a large number of diseases, including malignant hematological diseases, bone marrow, hemoglobinepathies and inborn errors of metabolism.
Revised, this edition incorporates new knowledge and clinical practices, as well as new topics like oppositional and mood disorders, and lower-incidence disorders like mitochondrial disease, major cortical anomalies, spina bifida, and inborn errors of metabolism.