Related topics: type 2 diabetes

Changing enzymes for clean energy and disease prevention

β-glycosidases are enzymes that play many roles in nature. They can play a role in metabolic disorders and can break down tough plant fibers. Fredj Ben Bdira changed these enzymes in order to enhance the production of clean ...

The function of many proteins remains unclear

The DNA of every organism holds the blueprints for building all the proteins it needs for its metabolic processes. While researchers already know what the blueprints look like for most proteins, they do not know what many ...

Metabolism directly impacts the odds of developing malaria

The progression and development of an infectious disease is directly dependent not only on the characteristics of the infectious agent but also on the genetic characteristics of the host, which also dictate the efficiency ...

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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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