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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.
Inborn errors of fatty acid metabolism. Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency [1] Medium-chain ketoacyl-CoA thiolase deficiency [1] Dienoyl-CoA reductase deficiency [1] Glutaric acidemia type II [1] Carnitine palmityl transferase deficiency type 1 [1] Carnitine palmityl transferase deficiency type 2 [1]
The gut microbiota, which is a population of microbes that live in the human digestive system, also has an important part in metabolism and generally has a positive function for its host. In terms of pathophysiological/mechanism interactions, an abnormal gut microbiota can play a role in metabolic disorder related obesity .
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.
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 ...
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.
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]
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.