Related topics: type 2 diabetes

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.

New biomarker for severe COVID-19

During the pandemic, it has become evident that people with cardiovascular disease and obesity are at much higher risk of developing very severe, even fatal COVID-19 disease. Researchers at Karolinska Institutet have identified ...

Key protein in cellular respiration discovered

Many diseases derive from problems with cellular respiration, the process through which cells extract energy from nutrients. Researchers at the Swedish medical university Karolinska Institutet have now discovered a new function ...

Study finds surprising benefits about diary cow inflammation

Inflammation. The word typically has a negative connotation. Arthritis … infection … numerous maladies come to mind. But a Kansas State University researcher found that inflammation that occurs naturally in dairy cows ...

Want more efficient muscles? Eat your spinach

(PhysOrg.com) -- After taking a small dose of inorganic nitrate for three days, healthy people consume less oxygen while riding an exercise bike. A new study in the February issue of Cell Metabolism traces that improved performance ...

page 1 from 10

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