News tagged with metabolic diseases
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 |
Joslin scientists have discovered a mechanism that regulates the production of brown fat, a type of fat which plays an important role in heat production and energy metabolism. The findings, which appear in the upcoming issue ...
Medical research Mar 13, 2013 | 5 / 5 (5) | 0 |
Most of the DNA alterations that are tied to disease do not alter protein-coding genes, but rather the "switches" that control them. Characterizing these switches is one of many goals of the ENCODE project ...
Genetics Sep 05, 2012 | 5 / 5 (3) | 1 |
For more than 20 years, doctors have been using cells from blood that remains in the placenta and umbilical cord after childbirth to treat a variety of illnesses, from cancer and immune disorders to blood ...
Medical research Jul 16, 2012 | 5 / 5 (5) | 0 |
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 |
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 |
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 |
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 |
Defects in a protein that functions as a dietary fat sensor may be a cause of obesity and liver disease, according to a study published in the journal Nature, led by researchers at Imperial College London. The findings highli ...
Medical research Feb 19, 2012 | 5 / 5 (3) | 0 |
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 |
Gaucher disease causes debilitating and sometimes fatal neurodegeneration in early childhood. Recent studies have uncovered a link between the mutations responsible for Gaucher disease and an increased risk ...
Parkinson's & Movement disorders May 23, 2013 | 5 / 5 (1) | 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 |
Type 1 (insulin-dependent) diabetes appears to increase the risk of heart disease, the leading cause of death among people with high blood sugar, partly by stimulating the production of calprotectin, a protein that sparks ...
Inflammatory disorders May 07, 2013 | 4.5 / 5 (2) | 0 |
Scientists from the Luxembourg Centre for Systems Biomedicine (LCSB) of the University of Luxembourg have discovered that immune cells in the brain can produce a substance that prevents bacterial growth: namely itaconic acid. ...
Medical research May 06, 2013 | 5 / 5 (1) | 0 |
(Medical Xpress)—A new University of Arizona study, published in the journal Neurology, suggests a possible link between elevated blood sugar levels and risk for developing Alzheimer's disease.
Alzheimer's disease & dementia May 06, 2013 | not rated yet | 0 |
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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