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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 gene affected is the HPD gene encoding 4-hydroxyphenylpyruvic acid dioxygenase, on chromosome 12q24. [4] It is unusual in that most other inborn errors of metabolism are caused by loss-of-function mutations, and hence have recessive inheritance (condition occurs only if both copies are mutated).
4-Hydroxyphenylpyruvate dioxygenase (HPPD), also known as α-ketoisocaproate dioxygenase (KIC dioxygenase), is an Fe(II)-containing non-heme oxygenase that catalyzes the second reaction in the catabolism of tyrosine - the conversion of 4-hydroxyphenylpyruvate into homogentisate.
4-Hydroxyphenylpyruvic acid (4-HPPA) is an intermediate in the metabolism of the amino acid phenylalanine. The aromatic side chain of phenylalanine is hydroxylated by the enzyme phenylalanine hydroxylase to form tyrosine. The conversion from tyrosine to 4-HPPA is in turn catalyzed by tyrosine aminotransferase. [2]
Phenylpyruvate tautomerase has also been found to exhibit the same keto-enol tautomerism for 4-Hydroxyphenylpyruvic acid, which is structurally similar to phenylpyruvate but contains an additional hydroxyl moiety in the para position of the aromatic ring. [1]
The United States Food and Drugs Administration is warning pet owners about a common medication given to pets to treat arthritis. The F.D.A. now says that the drug Librela may be associated with ...
4-Hydroxyphenylpyruvate dioxygenase (HPPD) is an enzyme found in both plants and animals, which catalyzes the catabolism of the amino acid tyrosine. [4] Preventing the breakdown of tyrosine has three negative consequences: the excess of tyrosine stunts growth; the plant suffers oxidative damage due to lack of tocopherols (vitamin E); and ...
Federal stats presented at a June forum showed that out of 625,000 eligible physicians nationwide, only 25,000 are certified to prescribe buprenorphine. A mere 2.5 percent of all primary care doctors have gone through the certification process. “I cannot say it enough,” said then-Sen. Carl Levin (D-Mich.) at the meeting.