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 |
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 |
Structure that edits messenger RNA transcripts defective in two different forms of motor neuron diseases
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are degenerative motor neuron diseases in which the key mutated genes are involved in RNA metabolism. This similarity suggests that a ...
Medical research Apr 26, 2013 | 5 / 5 (1) | 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 |
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 |
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.
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