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Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Vitamin, coenzyme, and cofactor metabolism disorders (12 P) Pages in category "Inborn errors of metabolism" The following 27 pages are in this category, out of 27 total.
Inborn errors of carbohydrate metabolism are inborn errors of metabolism that affect the catabolism and anabolism of carbohydrates. An example is lactose intolerance . Carbohydrates account for a major portion of the human diet.
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
Protein involved in Iron metabolism disorder (HFE) Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. [ 6 ] These diseases, of which there are many subtypes, are known as inborn errors of metabolism. [ 7 ]
Nicholson also created an "Inborn Errors of Metabolism" map for medical students, who felt the Nicholson Chart too focused on biochemistry for clinical medicine. Due to his wife's phobia of electrical devices, Nicholson did not digitise his maps until he bought his first computer after her death in 1996.
In medicine, Garrod's tetrad is a term named for British physician Archibald Garrod, who introduced the phrase "inborn errors of metabolism" in a lecture in 1908. [1] The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria. [2]