News tagged with metabolic diseases

Related topics: type 2 diabetes

Menopause and estrogen affect muscle function

According to a study conducted at the University of Jyväskylä, estrogen acts as a regulator of muscle energy metabolism and muscle cell viability. Menopause leads to the cessation of ovarian estrogen production concurrent ...

Oct 03, 2017
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New regulator of liver metabolism discovered

Researchers from Charité - Universitätsmedizin Berlin have identified an enzyme that has a major effect on glucose utilization in liver cells. The enzyme, retinol saturase, helps these cells adapt to variations in glucose ...

Sep 29, 2017
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Discovery may be key to obesity, diabetes Rx

Research led by Suresh Alahari, PhD, Fred Brazda Professor of Biochemistry and Molecular Biology at LSU Health New Orleans School of Medicine, has demonstrated the potential of a protein to treat or prevent metabolic diseases ...

Aug 31, 2017
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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.

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

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