Overweight & Obesity

Microprotein found to increase appetite in mice

Obesity and metabolic diseases, such as diabetes, are extremely common in the United States. Tiny proteins called microproteins have long been overlooked in research, but new evidence demonstrates that they have an important ...

Sports medicine & Kinesiology

Research backs benefits of making exercise a priority

As the ball drops on the new year, exercise often tops the list of people's resolutions. According to Zhen Yan, whose research highlights the benefits of exercise in improving health and preventing disease, science supports ...

Ophthalmology

Consensus statement on management of thyroid eye disease

The American Thyroid Association (ATA) and European Thyroid Association (ETA) have collaborated on the "Management of Thyroid Eye Disease: A Consensus Statement by the American Thyroid Association and European Thyroid Association." ...

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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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