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PAH deficiency causes a spectrum of disorders, including classic phenylketonuria (PKU) and mild hyperphenylalaninemia (also known as "hyperphe" or "mild HPA"), [24] a less severe accumulation of phenylalanine. Compared to classic PKU patients, patients with "hyperphe" have greater PAH enzyme activity and are able to tolerate larger amounts of ...
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
Pregnant women with PKU must control their blood phenylalanine levels even if the fetus is heterozygous for the defective gene because the fetus could be adversely affected due to hepatic immaturity. [medical citation needed] A non-food source of phenylalanine is the artificial sweetener aspartame. This compound is metabolized by the body into ...
Pegvaliase, sold under the brand name Palynziq, is a medication used for the treatment of the genetic disease phenylketonuria (PKU). [5] [9] [10] It is a phenylalanine (Phe)‑metabolizing enzyme. [5] Chemically, it is a pegylated derivative of the enzyme phenylalanine ammonia-lyase that metabolizes phenylalanine to reduce its blood levels. [5]
The compound exists in equilibrium with its (E)- and (Z)-enol tautomers.[citation needed] It is a product from the oxidative deamination of phenylalanine.When the activity of the enzyme phenylalanine hydroxylase is reduced, the amino acid phenylalanine accumulates and gets converted into phenylpyruvic acid (phenylpyruvate), which leads to 'Phenylketonuria (PKU)' instead of 'tyrosine' which is ...
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-heme iron for catalysis.
Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine.Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.
A common example of pleiotropy is the human disease phenylketonuria (PKU). This disease causes mental retardation and reduced hair and skin pigmentation, and can be caused by any of a large number of mutations in the single gene on chromosome 12 that codes for the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine to ...
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