Aug 8, 2023 · Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe) to generate tyrosine (Tyr).

May 13, 2022 · Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.

Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients.

Phenylketonuria (PKU): an autosomal recessive inborn error of phenylalanine (Phe) metabolism caused by variants in gene encoding.

This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase ( PAH ) gene.

Classical PKU, and its less severe forms "mild PKU" and "mild hyperphenylalaninemia" are caused by a mutated gene for the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine ("Phe") to other essential compounds in the body, in particular tyrosine.

Sep 26, 2023 · Phenylketonuria (PKU; MIM #261600) is a disorder affecting the aromatic amino acid, phenylalanine. It results from a deficiency of phenylalanine hydroxylase (PAH) and, if untreated, results in irreversible intellectual disability among other clinical symptoms . An overview of PKU is presented here.

May 20, 2021 · Phenylketonuria is a disorder of amino acid metabolism that causes a clinical syndrome of intellectual disability with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxylase activity.

• This slide denotes clinical features of classical PKU in untreated patients. Symptoms develop within a few months of birth only if untreated. • PAH, using a BH4 cofactor, converts Phe to tyrosine, which is necessary to produce epinephrine, norepinephrine, dopamine and melanin.

Sep 20, 2018 · Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, results from an impaired ability to metabolize the essential amino acid phenylalanine. Deficiency of the enzyme...