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.
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.
Read more about Inborn Error Of Metabolism: Major Categories of Inherited Metabolic Diseases, Incidence, Manifestations and Presentations, Diagnostic Techniques, Treatment, Resources
Famous quotes containing the words inborn, error and/or metabolism:
“Temperament is the natural, inborn style of behavior of each individual. It’s the how of behavior, not the why.... The question is not, “Why does he behave a certain way if he doesn’t get a cookie?” but rather, “When he doesn’t get a cookie, how does he express his displeasure...?” The environment—and your behavior as a parent—can influence temperament and interplay with it, but it is not the cause of temperamental characteristics.”
—Stanley Turecki (20th century)
“What has been the effect of [religious] coercion? To make one half the world fools, and the other half hypocrites. To support roguery and error all over the earth.”
—Thomas Jefferson (1743–1826)
“He’s got a fifteen percent metabolism with an overactive thyroid and a glandular affectation of about three percent. With a one percent mentality. He’s what we designate as the Crummy Moronic type.”
—Robert Pirosh, U.S. screenwriter, George Seaton, George Oppenheimer, and Sam Wood. Dr. Hugo Z. Hackenbush (Groucho Marx)