News tagged with metabolic diseases

Related topics: type 2 diabetes

Breast cancer gene protects against obesity, diabetes

(Medical Xpress)—The gene known to be associated with breast cancer susceptibility, BRCA 1, plays a critical role in the normal metabolic function of skeletal muscle, according to a new study led by University ...

Mar 12, 2014
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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 ...

Jan 29, 2014
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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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