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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.
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]
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.
Inborn errors of amino acid metabolism. Tyrosinemia II [1] Argininemia [1] Benign hyperphenylalaninemia; Defects of biopterin cofactor biosynthesis [1] Defects of biopterin cofactor regeneration [1] Tyrosinemia III [1] Hypermethioninemia [1] Citrullinemia type II [1] Inborn errors of organic acid metabolism. Methylmalonic acidemia (Cbl C,D) [1 ...
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.
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]
Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.