Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives [PDF]
Biomolecules, 2021 Phenylketonuria (PKU) is a genetic disease caused by deficient activity of human phenylalanine hydroxylase (hPAH) that, when untreated, can lead to severe psychomotor impairment.
Raquel R. Lopes +12 more
doaj +2 more sources
Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice [PDF]
Frontiers in Bioengineering and Biotechnology, 2022 Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs.
Maximiliano L. Cacicedo +11 more
doaj +2 more sources
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase [PDF]
Nature Communications, 2021 Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH) and can lead to neurotoxicity. Here the authors describe a mouse model of PKU based on a mutation in phenylalanine hydroxylase (R261Q) which replicates ...
Oscar Aubi +11 more
doaj +2 more sources
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2019 Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes).
Rosa E. Enacán +10 more
doaj +2 more sources
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant [PDF]
Chinese Medical Journal, 2015 Jun Ye +4 more
doaj +3 more sources
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency [PDF]
Frontiers in Neurology, 2021 In phenylalanine hydroxylase (PAH) deficiency, an easily feasible method to access the progression of neurodegeneration is warranted to contribute to current discussions on treatment indications and targets.
Amelie S. Lotz-Havla +9 more
doaj +2 more sources
In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine Breath Test: Diagnosis of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency [PDF]
Pediatric Research, 2004 Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all patients with mild PKU respond to BH4.
Yoshiyuki Okano +9 more
openalex +3 more sources
Phenylalanine Hydroxylase Deficiency Hospitalizations [PDF]
ICAN: Infant, Child, & Adolescent Nutrition, 2015 Phenylalanine hydroxylase (PAH) deficiency is a metabolic disorder that requires lifelong diet adherence for optimal neurodevelopmental and psychological outcomes. Maintaining phenylalanine (Phe) levels within the desired range (120-360 µmol/L) can be increasingly difficult as children grow older, gain more autonomy, and are affected by social ...
Emily Barr +3 more
openalex +2 more sources
Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase. [PDF]
Biochimie, 2021 Arturo EC +6 more
europepmc +2 more sources
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. [PDF]
Orphanet J Rare Dis, 2021 Foreman PK +7 more
europepmc +3 more sources