Immunology

Energizing the immune system to eat cancer

Immune cells called macrophages are supposed to serve and protect, but cancer has found ways to put them to sleep. Now researchers at the Abramson Cancer Center of the University of Pennsylvania say they've identified how ...

Medical research

Enduring cold temperatures alters fat cell epigenetics

A new study in fat cells has revealed a molecular mechanism that controls how lifestyle choices and the external environment affect gene expression. This mechanism includes potential targets for next-generation drug discovery ...

Diabetes

Diabetes linked to bacteria invading the colon, study finds

In humans, developing metabolic disease, particularly type 2 diabetes, is correlated with having bacteria that penetrate the mucus lining of the colon, according to a study led by Drs. Benoit Chassaing and Andrew Gewirtz ...

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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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