NIH/UW entry on Phenylalanine Hydroxylase Deficiency Locus-specific database of the human phenylalanine hydroxylase gene ... Phenylalanine hydroxylase is closely related to two other enzymes: tryptophan hydroxylase (EC number 1.14.16.4), which controls ... "Regulation of phenylalanine hydroxylase: conformational changes upon phenylalanine binding detected by hydrogen/deuterium ... "Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylase". Archives of Biochemistry and ...

Kaufman S (1962). "Phenylalanine hydroxylase". Methods Enzymol. 5: 809-816. doi:10.1016/s0076-6879(62)05317-3. Lind KE ( ... a controlled diet which is lacking in phenylalanine, well as supplementation of L-DOPA. Sepiapterin reductase Longo N (June ...

Mitchell, J. J.; Trakadis, Y. J.; Scriver, C. R. (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): ... Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in ... to measure phenylalanine levels in blood samples obtained by pricking a newborn baby's heel on the second day of life on filter ... is caused by a deficiency of the enzyme steroid 21-hydroxylase and comes in two forms - simple virilizing and a salt-wasting ...

Mitchell, J. J.; Trakadis, Y. J.; Scriver, C. R. (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): ...

The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this ... are caused by a mutated gene for the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine ("Phe ... It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an ... Regier, Debra S.; Greene, Carol L. (July 25, 1993). "Phenylalanine Hydroxylase Deficiency". In Adam, Margaret P.; Mirzaa, ...

Deficiency in phenylalanine hydroxylase and transaminase activity". Journal of Pediatrics. 68 (3): 351-360. doi:10.1016/s0022- ...

Fusetti, F.; Erlandsen, H; Flatmark, T; Stevens, RC (1998). "Structure of Tetrameric Human Phenylalanine Hydroxylase and Its ... 1995). "Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic ... Pro mutant human phenylalanine hydroxylase". European Journal of Biochemistry. 268 (4): 997-1005. doi:10.1046/j.1432-1327.2001. ... "Structure/Function Relationships in Human Phenylalanine Hydroxylase. Effect of Terminal Deletions on the Oligomerization, ...

Phenylalanine hydroxylase catalyzes the conversion of L-phenylalanine to L-tyrosine. Tyrosine hydroxylase catalyzes the rate- ... are a family of aromatic amino acid hydroxylase enzymes which includes phenylalanine 4-hydroxylase (EC 1.14.16.1), tyrosine 3- ... In humans, phenylalanine hydroxylase deficiency can cause phenylketonuria, the most common inborn error of amino acid ... and tryptophan 5-hydroxylase (EC 1.14.16.4). These enzymes primarily hydroxylate the amino acids L-phenylalanine, L-tyrosine, ...

Phenylalanine hydroxylase (PAH) catalyses the conversion of L-phenylalanine (PHE) to L-tyrosine (TYR). Therefore, a deficiency ... The first enzyme found to use tetrahydrobiopterin is phenylalanine hydroxylase (PAH). Tetrahydrobiopterin is biosynthesized ... Tyrosine hydroxylase (TH) catalyses the conversion of L-tyrosine to L-DOPA (DOPA), which is the precursor for dopamine. ... The major one is to convert amino acids such as phenylalanine, tyrosine, and tryptophan to precursors of dopamine and serotonin ...

In mammals, tyrosine can be formed from dietary phenylalanine by the enzyme phenylalanine hydroxylase, found in large amounts ... Tyrosine is created from phenylalanine by hydroxylation by the enzyme phenylalanine hydroxylase. Tyrosine is also ingested ... Insufficient amounts of phenylalanine hydroxylase result in phenylketonuria, a metabolic disorder that leads to intellectual ... which inhibits tyrosine hydroxylase.[citation needed] The amino acids phenylalanine and tyrosine are precursors for ...

... , phenylalanine hydroxylase and tryptophan hydroxylase together make up the family of aromatic amino acid ... This has shown how its structure is very similar to that of phenylalanine hydroxylase and tryptophan hydroxylase; together the ... Tryptophan is a poor substrate for tyrosine hydroxylase, however it can hydroxylate L-phenylalanine to form L-tyrosine and ... Ledley FD, DiLella AG, Kwok SC, Woo SL (Jul 1985). "Homology between phenylalanine and tyrosine hydroxylases reveals common ...

The aromatic amino acid hydroxylases include phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylases. They ...

First, the amino acid phenylalanine, through the enzyme phenylalanine hydroxylase, is transformed into tyrosine. Tyrosine can ... follow two different routes: by tyrosine hydroxylase it can form L-dopamine (L-DOPA), or it can be reduced to form 4- ...

In 1953, G. A. Jervis identified a defect in the hepatic enzyme phenylalanine hydroxylase (PAH) as a cause of PKU. This led to ... Woo SL, Lidsky AS, Güttler F, Chandra T, Robson KJ (1983). "Cloned human phenylalanine hydroxylase gene allows prenatal ... Guthrie R, Susi A (1963). "A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants ... Jervis GA (1953). "Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system". Proceedings of the Society for ...

March 1993). "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. ... "Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two- ... This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. The enzyme ...

Tetrahydrobiopterin works with an enzyme called phenylalanine hydroxylase to process a substance called phenylalanine. ... When tetrahydrobiopterin interacts with phenylalanine hydroxylase, tetrahydrobiopterin is altered and must be recycled to a ... 1998). "Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by ... In the absence of usable tetrahydrobiopterin, the body cannot process phenylalanine correctly. As a result, phenylalanine from ...

Those with this deficiency may produce sufficient levels of the enzyme phenylalanine hydroxylase (PAH) but, since ... In healthy individuals, it is metabolised (hydroxylated) into tyrosine, another amino acid, by phenylalanine hydroxylase. ... The normal level of phenyl alanine in plasma is 1-2 mg/dl and in PKU, it normally ranges between 20-65 mg/dl. The main test for ... Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing ...

The conversion of Phe to Tyr is catalyzed by the enzyme phenylalanine hydroxylase, a monooxygenase. This enzyme catalyzes the ... In dopaminergic cells in the brain, tyrosine is converted to L-DOPA by the enzyme tyrosine hydroxylase (TH). TH is the rate- ... Tyrosine, which can also be synthesized in the body from phenylalanine, is found in many high-protein food products such as ... The m-tyr and o-tyr isomers, which are rare, arise through non-enzymatic free-radical hydroxylation of phenylalanine under ...

... (DHS) is a centrally-acting inhibitor of the enzyme phenylalanine hydroxylase (PH). It is likely that DHS ... Phenylalanine hydroxylase Koizumi S, Matsushima Y, Nagatsu T, Iinuma H, Takeuchi T, Umezawa H (September 1984). "3,4- ... a novel microbial inhibitor for phenylalanine hydroxylase and other pteridine-dependent monooxygenases". Biochimica et ...

The aromatic side chain of phenylalanine is hydroxylated by the enzyme phenylalanine hydroxylase to form tyrosine. The ... "Effect of glucagon on phenylalanine metabolism and phenylalanine-degrading enzymes in the rat". Biochemical Journal. 142 (2): ... 4-Hydroxyphenylpyruvic acid (4-HPPA) is an intermediate in the metabolism of the amino acid phenylalanine. ...

... is biosynthesized from tyrosine which, in turn, is derived from phenylalanine by the enzyme phenylalanine hydroxylase ... Phenylalanine serves as a precursor by first being converted to L-tyrosine by L-amino acid hydroxylase. Once converted, it ... The resulting intermediate is then oxidized again by a hydroxylase enzyme, likely monophenol hydroxylase again, at carbon 5, ... Tyrosine and phenylalanine serve as metabolic precursors towards the synthesis of mescaline. Tyrosine can either undergo a ...

... phenylalanine hydroxylase, the enzyme deficient in PKU) & DHPR (di-hydro-folate reductase, also involved in PKU), as well as ... its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria". ...

... (TPH), tyrosine hydroxylase (TH) and phenylalanine hydroxylase (PAH) are members of a superfamily of ... Tyrosine hydroxylase, phenylalanine hydroxylase, and tryptophan hydroxylase together constitute the family of biopterin- ... Analogously to phenylalanine hydroxylase and tyrosine hydroxylase, this enzyme uses (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin ... Tryptophan+Hydroxylase at the U.S. National Library of Medicine Medical Subject Headings (MeSH) See also tryptophan hydroxylase ...

Phenylalanine is converted into tyrosine by the enzyme phenylalanine hydroxylase, with molecular oxygen (O2) and ... Tyrosine is converted into L-DOPA by the enzyme tyrosine hydroxylase, with tetrahydrobiopterin, O2, and probably ferrous iron ( ... The metabolic pathway is: Phenylalanine → Tyrosine → L-DOPA → Dopamine → Norepinephrine Thus the direct precursor of ... formerly known as dopamine β-hydroxylase), with O2 and ascorbic acid as cofactors. Norepinephrine itself can further be ...

Inhibition of phenylalanine hydroxylase, a pterin-requiring monooxygenase, by ouudenone and its derivatives, Journal of ... lesions with inhibitors of tyrosine hydroxylase. Linda Mutter in the WRC Toxicology Section used a spot test for tyrosine on ... Laboratory identified triketone inhibition of tyrosine catabolism in rat liver and also found that tyrosine hydroxylase was not ...

... of alleles at the gene locus for the enzyme phenylalanine hydroxylase (PAH). Many of these alleles produce little or no PAH, as ... Phenylalanine Hydroxylase; PAH - 612349 Carr, Steven M. "One Gene, One Enzyme". Memorial University of Newfoundland. "On-line ... and the concentration of phenylalanine in the blood [Phe] is about 60 μM (= μmol/L). In untreated persons homozygous for one of ... a result of which the substrate phenylalanine (Phe) and its metabolic byproducts accumulate in the central nervous system and ...

... is a metabolic disorder in which the individual is missing an enzyme called phenylalanine hydroxylase. Absence of this enzyme ... allows the buildup of phenylalanine, which can lead to mental retardation. Genetic engineering - taking a gene from one ...

... is the inability to metabolize phenylalanine because of a lack of the enzyme phenylalanine hydroxylase. Individuals with this ... DL-Phenylalanine is a mixture of D-phenylalanine and L-phenylalanine. The reputed analgesic activity of DL-phenylalanine may be ... Phenylalanine is converted to cinnamic acid by the enzyme phenylalanine ammonia-lyase. Phenylalanine is biosynthesized via the ... A small amount of D-phenylalanine appears to be converted to L-phenylalanine. D-Phenylalanine is distributed to the various ...

Other enzymes involved in the catabolism of phenylalanine include phenylalanine hydroxylase, aminotransferase, p- ... In the phenylalanine degradation pathway, 4-maleylacetoacetate isomerase catalyzes a cis-trans isomerization of 4- ... 4-Maleylacetoacetate isomerase is an enzyme involved in the degradation of L-phenylalanine. It is encoded by the gene ... The conversion of 4-maleylacetoacetate to fumarylacetoacetate is a step in the catabolism of phenylalanine and tyrosine, amino ...

L-Phenylalanine is converted into L-tyrosine by the enzyme phenylalanine hydroxylase, with molecular oxygen (O2) and ... L-Phenylalanine → L-Tyrosine → p-Tyramine → Dopamine Minor: L-Phenylalanine → m-Tyrosine → m-Tyramine → Dopamine The direct ... L-Tyrosine is converted into L-DOPA by the enzyme tyrosine hydroxylase, with tetrahydrobiopterin, O2, and iron (Fe2+) as ... Dopamine is converted into norepinephrine by the enzyme dopamine β-hydroxylase, with O2 and L-ascorbic acid as cofactors. ...