Results 31 to 40 of about 538,734 (195)

PKU dietary handbook to accompany PKU guidelines

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen   +17 more
doaj   +1 more source

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, Mary Sowa, Monica Boyer, Richard Chang   +3 more
openaire   +1 more source

Phenylketonuria (PKU): A problem solved?

Molecular Genetics and Metabolism Reports, 2016
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Christine S. Brown, Uta Lichter-Konecki
doaj   +1 more source

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency [PDF]

Jornal de Pediatria, 2011
To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH).Interventional study, convenience sampling. The inclusion criteria were: diagnosis of HPA-PAH; age ≥ 7 years; phenylalanine-restricted diet and phenylalanine (Phe) levels ≥ 6 mg/dL in ...
Giugliani, Luciana, Sitta, Angela, Vargas, Carmen Regla, Silva, Luiz Carlos Santana da, Nalin, Tatiéle, Pereira, Maria Luiza Saraiva, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein   +7 more
openaire   +3 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, Yutaka, Hase, Mie, Kawajiri, Yasuaki, Nishi, Koji, Inui, Norio, Sakai, Yoko, Tanaka, Kazuhiko, Takatori, Masahiro, Kajiwara, Tsunekazu, Yamano   +9 more
openaire   +2 more sources

A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

Molecular Genetics and Metabolism Reports, 2023
Phenylketonuria is an inborn error of phenylalanine metabolism caused by a phenylalanine hydroxylase deficiency. To prevent the occurrence of neurological symptoms and maternal complications resulting from phenylketonuria, patients must adhere to a ...
Yoichi Wada, Eriko Totsune, Yasuko Mikami-Saito, Atsuo Kikuchi, Toshio Miyata, Shigeo Kure   +5 more
doaj   +1 more source

Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

Molecular Genetics and Metabolism Reports, 2020
Background: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine.
Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson   +5 more
doaj   +1 more source

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source

Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]

Journal of Medical Biochemistry, 2009
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj  

Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review [PDF]

International Journal of Nutrition Sciences, 2019
Phenylketonuria or PKU has an important place in medical history as the first congenital metabolic disorder. It is a genetic defect in the phenylalanine hydroxylase enzyme existing in the liver and kidneys which is responsible for the conversion of ...
Fatemeh Fooladi, Zahra Sohrabi, Marzieh Akbarzadeh   +2 more
doaj   +1 more source