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It is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine. [7] Liver transplant is indicated for patients with tyrosinemia type I who do not respond to nitisinone, as well as those with acute liver failure and ...
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 .
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]
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.
HT-2—tyrosinemia type II, HT-3—tyrosinemia type III, AKU—alkaptonuria, HT-1—tyrosinemia type I. Substrates/products: Phe—phenylalanine, Tyr—tyrosine, pHPP—p-hydroxyphenylpyruvate, hga—homogentisate, maa—maleylacetoacetate, faa—fumarylacetoacetate. Enzymes: PAH—phenylalanine hydroxylase, TAT—tyrosine transaminase,
Phenylalanine ball and stick model spinning. Phenylalanine (symbol Phe or F) [3] is an essential α-amino acid with the formula C 9 H 11 NO 2.It can be viewed as a benzyl group substituted for the methyl group of alanine, or a phenyl group in place of a terminal hydrogen of alanine.
Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) in patients from all ages, in combination with dietary restriction of tyrosine and phenylalanine. [medical citation needed] Since its first use for this indication in 1991, it has replaced liver transplantation as the first-line treatment for this ultra rare condition. [4]
Standard phenylalanine concentrations in unaffected persons are about 2-6mg/dl (120–360 μmol/L) phenylalanine concentrations in those with untreated hyperphenylalaninemia can be up to 20 mg/dL (1200 μmol/L). Measurable IQ deficits are often detected as phenylalanine levels approach 10 mg/dL (600 mol/L).