Obstetrics & gynaecology

New study finds that menopause increases risk of metabolic syndrome

Perimenopause is a time when women become more vulnerable to a number of health problems. A new study based on data from the Canadian Longitudinal Study on Aging identified menopause as a risk factor for the development of ...

Medical research

Lack of mitochondria causes severe disease in children

Researchers at Karolinska Institutet in Sweden have discovered that excessive degradation of mitochondria, the power plants of cells, plays an important role in the onset of mitochondrial disease in children. These inherited ...

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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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