News tagged with metabolic diseases

Related topics: type 2 diabetes

Some fat cells can feel the cold

(Medical Xpress)—To survive in cold environments, mammals burn fat to produce heat. The breakdown of fat helps prevent obesity and related metabolic diseases, such as diabetes. Bruce Spiegelman and his colleagues at Harvard ...

Jul 02, 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.

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