Related topics: type 2 diabetes

Statins could be key to saving Tasmanian devils

Cholesterol-lowering drugs could help delay the spread of the deadly Tasmanian devil facial tumor disease (DFTD) and may help protect the endangered Australian marsupials from extinction, newly published research by QIMR ...

Seeing the invisible—A novel gas imaging system

Researchers from Tokyo Medical and Dental University develop a novel gas imaging system to simultaneously visualize and measure gases that are released through the skin in real-time. Gases emitted from the human body have ...

Looking at the good vibes of molecules

Metabolic diseases such as diabetes and obesity are ever more common globally. In addition to genetic disposition, lifestyle contributes strongly to the prevalence of these metabolic diseases. Precise monitoring methods are ...

page 1 from 8

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.

This text uses material from Wikipedia, licensed under CC BY-SA