News tagged with metabolic diseases

Related topics: type 2 diabetes

BMI thresholds predict metabolic syndrome in teens

(HealthDay)—The U.S. Centers for Disease Control and Prevention and FITNESSGRAM (FGram) body mass index (BMI) thresholds are predictive of metabolic syndrome in U.S. adolescents, according to a study published online Jan. ...

Jan 29, 2014
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Congenital heart disease causes hypoglycaemia

In a new study, scientists from University of Copenhagen document a connection between congenital arrhythmia and the bodies' ability to handle sugar. The results can be of vital importance for patients with the disease and ...

Dec 19, 2013
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Inborn error of metabolism

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal 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, and these terms are considered synonymous.

The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (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.

This text uses material from Wikipedia, licensed under CC BY-SA

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