Inborn error of metabolism
hideInborn 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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News tagged with metabolic diseases
Premium car research & cow dung point to new high tech disease diagnosis
Oct 12, 2009 |
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(PhysOrg.com) -- Research at the University of Warwick have taken high tech gas sensors normally used to test components for premium cars and applied the same techniques to human blood, human urine, and even cow dung samples ...
Low-fat diet helps genetically predisposed animals avoid liver cancer
Jun 12, 2009 |
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In a study comparing two strains of mice, one susceptible to developing cancer and the other not, researchers found that a high-fat diet predisposed the cancer-susceptible strain to liver cancer, and that by switching to ...
Fatty foods fire up hunger hormone
Jun 06, 2009 |
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New research led by the University of Cincinnati (UC) suggests that the hunger hormone ghrelin is activated by fats from the foods we eat—not those made in the body—in order to optimize nutrient metabolism and promote the ...
Researchers identify missing target for calcium signaling
Medicine & Health / Neuroscience
Apr 22, 2009 |
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An international study led by Ohio State University neuroscience researchers describes one of the missing triggers that controls calcium inside cells, a process important for muscle contraction, nerve-cell transmission, insulin ...
Scientists reveal key enzyme in fat absorption
Mar 16, 2009 |
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Scientists at the Gladstone Institutes of Cardiovascular Disease (GICD) have found that a key enzyme involved in absorbing fat may also be a key to reducing it. The enzyme, acyl CoA: monoacylglycerol acyltransferase 2 or ...
From Bench to Bedside: Insect Research Yields Promising New Drug for Diabetes, Hypertension and Inflammatory Disorders
Mar 05, 2009 |
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(PhysOrg.com) -- A new drug developed at the University of California, Davis, to treat diabetes, hypertension and inflammatory diseases has entered Phase IIa of human clinical trials to evaluate its efficacy.
New test for mysterious metabolic diseases developed at Stanford/Packard
Feb 11, 2009 |
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Scientists at Stanford University School of Medicine have devised a much-needed way to monitor and find treatments for a mysterious and devastating group of metabolic diseases that arise from mutations in cells' fuel-burning ...
Control of blood vessels a possible weapon against obesity
Jan 07, 2009 |
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Mice exposed to low temperatures develop more blood vessels in their adipose tissue and metabolise body fat more quickly, according to a new study from Karolinska Institutet. Scientists now hope to learn how to control blood ...
