Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. PAH is one of three members of the biopterin -dependent aromatic amino acid hydroxylases , a class of monooxygenase that uses tetrahydrobiopterin (BH 4 , a pteridine cofactor) and a non ...

2013年3月4日 · Mammalian phenylalanine hydroxylase (PAH) catalyzes the rate-limiting step in the phenylalanine catabolism, consuming about 75% of the phenylalanine input from the diet and protein catabolism under physiological conditions.

2000年1月10日 · PAH deficiency is an inborn error of Phe metabolism caused by biallelic PAH pathogenic variants resulting in reduced activity of the enzyme PAH. The main consequences of PAH deficiency are: (1) accumulation of alternative products of Phe metabolism, including phenylacetic, phenylpyruvic, and phenyllactic acid, which are toxic to brain ...

2024年12月25日 · PAH (Phenylalanine Hydroxylase) is a Protein Coding gene. Diseases associated with PAH include Phenylketonuria and Hyperphenylalaninemia. Among its related pathways are Biogenic amine synthesis and tyrosine degradation.

2019年9月20日 · Phenylketonuria (PKU), caused by mutations in PAH that impair PAH function, leads to neurological impairment when untreated. Understanding the hPAH structural and...

Phenylalanine hydroxylase (PAH) is a key enzyme in the catabolism of phenylalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental retardation if untreated.

Phenylalanine (Phe) hydroxylase (PAH) is the key enzyme in the metabolism of the essential amino acid Phe, converting Phe into tyrosine whereby using tetrahydrobiopterin (BH4) as its cofactor.

Phenylalanine hydroxylase (PAH) is an iron-containing enzyme, mainly expressed in liver, that catalyzes the conversion of the essential amino acid L-Phe (hereafter referred to as “Phe”) into L-Tyr utilizing the cofactor 6R-L-erythro-tetrahydrobiopterin (BH4) and dioxygen [1], [2].

Phenylalanine hydroxylase (PAH) is a metabolic enzyme that converts Phe to Tyr using molecular oxygen, enzyme-bound iron, and a 6R-tetrahydrobiopterin (BH 4) cofactor (1–3). PAH is a member of the aromatic amino acid hydroxylase family, together with tyrosine hydroxylase (TH) and tryptophan hydroxylase (TPH).

2011年5月6日 · Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid...