Chalk up another reason why your gut bacteria are so critical to your health—and why these microorganisms could be the key to preventing a host of diseases. Scientists in Sweden have discovered that human intestinal flora ...
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Risk for cardiovascular disease, currently running rampant in the United States, can now be predicted for adolescents thanks to a new diagnostic test developed by a University of Virginia Children's Hospital pediatrician ...
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In a first-of-its-kind exploratory study, the Translational Genomics Research Institute (TGen) has identified a potential gene associated with the initiation of the most common cause of liver damage.
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Researchers have shown the biomarker role of certain circulatory microRNAs (miRNAs) characteristic of "Asian Indian phenotype' in patients with type 2 diabetes – a metabolic disease referred to as 'madhumeha' in Ayurveda. ...
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The fact that obesity increases the risk of cardiovascular disease and some cancers is well known. But a new Iowa State University study adds to the growing evidence that memory loss should also be a top concern.
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A metabolic imbalance caused by radiation from your wireless devices could be the link to a number of health risks, such as various neurodegenerative diseases and cancer, a recent study suggests.
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The best-known genetic variant linked to Alzheimer's disease may be "at work" promoting deposits of plaque in the brain long before any symptoms of the disease can be measured on tests, according to a national research study ...
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Mice that have a genetic version of mitochondrial disease can easily be mistaken for much older animals by the time they are nine months old: they have thinning grey hair, osteoporosis, poor hearing, infertility, heart problems ...
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The protein complex mTORC1 is a central regulator of cell metabolism. In the active state, it stimulates anabolic processes and increases the production and storage of proteins and lipids. Researchers from the German Leibniz ...
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An International Osteoporosis Foundation (IOF) Working Group on Skeletal Rare Diseases has published a new classification of rare genetic metabolic bone disorders (RGMBDs) according to their metabolic pathogenesis.
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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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