inborn error of metabolism

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Related to Errors of metabolism: Metabolic diseases
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The best approach to counter Inborn Errors of Metabolism is by modifying the diet intake, replacement or enrichment of missing enzymes, and removal of toxic build up.
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.
inborn errors of metabolism, genodermatosis, skeletal dysplasias and X-linked mental retardation.
Classification of inborn errors of metabolism according to Saudubray et al.
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).
The inquest in Bristol heard Mrs Williams and her husband David did not know at the time their daughter had medium chain acyl dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder associated with 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.
The have organized the papers into sections that focus in turn on: chemistry, biochemistry, and the formation and reactivity of endogenous toxins such as metabolic intermediates and reactive oxygen species, particularly those associated with excessive sugar, fat, meat, or alcohol consumption; the association of increased endogenous toxin levels with inborn errors of metabolism such as galactosemia, hyperlipidemia, porphyria, hemochromatosis, and related conditions; examples of endogenous toxins that appear to be associated with acquired diseases or animal disease models, including hepatic injury, asthma, rheumatism, colorectal cancer, reperfusion diseases, neurodegeneration, and aging; and nutritional and pharmacologic therapeutics that have been proposed for decreasing endogenous toxins.
The field of inborn errors of metabolism, that now includes more than 40 different diseases, began in the very early part of the 20th century when Archibald Garrod, a British Physician studied the urine in a group of a few families that had a rare disease.
Breakthroughs in technology, particularly the use of tandem mass spectrometry (MS/MS), have allowed for the development of fast and inexpensive protocols to quantify amino, organic, and fatty-acid metabolites as markers for inborn errors of metabolism on a scale amenable to population screening.
Dyshormonogenetic goiter is the name given to a family of inborn errors of metabolism that lead to defects in the synthesis of thyroid hormone.
In contrast, children with autism, mental retardation, certain inborn errors of metabolism, and various other conditions may have pathologic motor stereotypies.
This case illustrates how inborn errors of metabolism resulting in organic acidemia can be manifested in adults and why the internist needs to be aware of them.
Inborn errors of metabolism (briefly covered in the first edition) are not here, and I could not find mention of Meals-on-Wheels.
For babies born with genetic defects known as inborn errors of metabolism, the prospects can be grim.