News tagged with metabolic diseases
While the search continues for the Fountain of Youth, researchers may have found the body's "fountain of aging": the brain region known as the hypothalamus. For the first time, scientists at Albert Einstein ...
Neuroscience May 01, 2013 | 4.8 / 5 (21) | 8 |
It turns out that when we eat may be as important as what we eat. Scientists at the Salk Institute for Biological Studies have found that regular eating times and extending the daily fasting period may override ...
Medical research May 17, 2012 | 4.8 / 5 (17) | 7 |
Men tend to store fat in the abdominal area, but don't usually have much in the way of hips or thighs. Women, on the other hand, are more often pear-shaped—storing more fat on their hips and thighs than in the belly. Why ...
Medical research Jan 11, 2013 | 4.8 / 5 (14) | 3 |
A group of scientists from across the world have come together in a just-published study that provides new insights into how fructose causes obesity and metabolic syndrome, more commonly known as diabetes.
Medical research Feb 27, 2012 | 4.9 / 5 (11) | 1 |
Sequencing a patient's entire genome to discover the source of his or her disease is not routine yet. But geneticists are getting close.
Genetics Feb 03, 2012 | 5 / 5 (9) | 0 |
A University of Michigan cell biologist and his colleagues have identified a potential drug that speeds up trash removal from the cell's recycling center, the lysosome.
Medical research Mar 13, 2012 | 5 / 5 (9) | 0 |
Brown seems to be the color of choice when it comes to the types of fat cells in our bodies. Brown fat expends energy, while its counterpart, white fat stores it. The danger in white fat cells, along with the increased risk ...
Medical research May 06, 2012 | 5 / 5 (8) | 0 |
A 98-year-old researcher argues that, contrary to decades of clinical assumptions and advice to patients, dietary cholesterol is good for your heart – unless that cholesterol is unnaturally oxidized (by ...
Cardiology Feb 27, 2013 | 5 / 5 (8) | 0
A single junk food meal – composed mainly of saturated fat – is detrimental to the health of the arteries, while no damage occurs after consuming a Mediterranean meal rich in good fats such as mono-and polyunsaturated ...
Health Oct 30, 2012 | 3.9 / 5 (10) | 0 |
Harvard School of Public Health (HSPH) researchers have discovered that a particular type of protein (hormone) found in fat cells helps regulate how glucose (blood sugar) is controlled and metabolized (used for energy) in ...
Diabetes May 07, 2013 | 4.6 / 5 (8) | 1 |
An article to be published Friday (Dec. 23) in the December 2011 issue of The Quarterly Review of Biology argues that multiple sclerosis, long viewed as primarily an autoimmune disease, is not actually a disease of the im ...
Immunology Dec 22, 2011 | 4.5 / 5 (8) | 2 |
Researchers in the Life Sciences Institute at the University of Michigan have challenged a long-held belief that whitening of skeletal muscle in diabetes is harmful.
Medical research Apr 07, 2013 | 4.9 / 5 (7) | 0 |
Stop exercising, eat as much as you want ... and still lose weight? It sounds impossible, but UC Irvine and Italian researchers have found that by blocking a natural, marijuana-like chemical regulating energy metabolism, ...
Medical research Mar 06, 2012 | 4.8 / 5 (6) | 9 |
In a finding that may challenge popular notions of body fat and health, researchers at Beth Israel Deaconess Medical Center (BIDMC) have shown how fat cells can protect the body against diabetes. The results may lead to a ...
Medical research Apr 01, 2012 | 4.8 / 5 (6) | 0 |
National Institutes of Health researchers and their colleagues have identified how resveratrol, a naturally occurring chemical found in red wine and other plant products, may confer its health benefits. The authors present ...
Medical research Feb 02, 2012 | 5 / 5 (5) | 2 |
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.
For more information about Inborn error of metabolism, read the full article at
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