Related topics: type 2 diabetes

RNA modification: Mechanisms and therapeutic targets

RNA modifications are dynamic and reversible chemical modifications on substrate RNA that regulate mRNA stability, translation, and localization. This review is designed by Dr. Junhong Han and written by his postdoctoral ...

Milk analysis reveals 'invisible' disease in dairy cows

Researchers have developed a new method of detecting a metabolic disease that affects dairy cows after calving. The aim is to determine whether cows are at risk of contracting the disease before they actually become sick.

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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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