Search results
Results from the WOW.Com Content Network
As a result of TAT deficiency, the substrate tyrosine accumulates, causing ophthalmologic and dermatologic abnormalities. [3] Type III tyrosinemia results from a mutation in the HPD gene, which encodes the enzyme 4-hydroxyphenylpyruvate dioxygenase. [4] Type III tyrosinemia is the rarest of the three conditions, with only a few cases ever ...
Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with the kidneys and peripheral nerves. [1] The inability of cells to process tyrosine can lead to chronic liver damage ending in liver failure , as well as renal disease and rickets .
Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT.Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy.
Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. [2] This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine.
The disease results from a deficiency in hepatic tyrosine aminotransferase. [10] Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. [10]
Fumarylacetoacetate hydrolase (FAH) is a protein homodimer which cleaves fumarylacetoacetate at its carbon-carbon bond during a hydrolysis reaction. [8] As a critical enzyme in phenylalanine and tyrosine metabolism, 4-Fumarylacetoacetate hydrolase catalyzes the final step in the catabolism of 4-fumarylacetoacetate and water into acetoacetate, fumarate, and H + respectively. [9]
The production of hawkinsin is the result of a gain-of-function mutation. Inheritance of hawkinsinuria is therefore autosomal dominant (presence of a single mutated copy of the gene causes the condition). The gene affected is the HPD gene encoding 4-hydroxyphenylpyruvic acid dioxygenase, on chromosome 12q24. [4]
Succinylacetone is a chemical compound that is formed by the oxidation of glycine and is a precursor of methylglyoxal.It is a pathognomonic compound found in the urine of patients with tyrosinemia type 1, [1] which is due to congenital deficiency of an enzyme, fumarylacetoacetate hydrolase.