Results 61 to 70 of about 669 (133)

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi   +2 more
wiley   +1 more source

Recommendations for the use of sapropterin in phenylketonuria

, 2012
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet.
Prasad, Suyash, Cederbaum, Stephen, Brown, Mary, Pender, Amy, Wessel, Ann, Chapman, Maggie, Ernst, Sharon, McClure, Julie, O'Steen, Donna, Cunningham, Amy, DeFouw, Kari, McCune, Helen, Bausell, Heather, Shediac, Renée, Skrabal, Jill, Jurecki, Elaina, Gillis, Jane   +16 more
core   +1 more source

Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels. [PDF]

Int J Environ Res Public Health
Background: We assessed the relationship between the cognitive development of children and adolescents with phenylketonuria (PKU) and fluctuations in peripheral phenylalanine (Phe) levels.
Feldmann R, Och U, Beckmann LS, Weglage J, Rutsch F.   +4 more
europepmc   +2 more sources

An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort

International Journal of Genomics, Volume 2025, Issue 1, 2025.
Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene, resulting in deficient phenylalanine hydroxylase (PAH) enzyme activity and neurotoxic phenylalanine accumulation. Untreated PKU results in progressive neurodegeneration and severe intellectual disability.
Gülten Tuncel, Mehmet Cihan Balcı, Gökçe Akan, Hasan Hüseyin Kazan, Özge Özgen, Ahmet Çağlar Özketen, Meryem Karaca, Asuman Gedikbaşı, Fatmahan Atalar, Gülden Fatma Gökçay, Irfan Ahmad   +10 more
wiley   +1 more source

Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants

Clinical Pharmacology in Drug Development, Volume 13, Issue 5, Page 506-516, May 2024.
Abstract Sepiapterin is an orally administered drug in development for the treatment of phenylketonuria, an inborn error of metabolism characterized by the deficiency of the phenylalanine‐metabolizing enzyme phenylalanine hydroxylase. This study characterized the pharmacokinetics, safety, and tolerability of 2 clinical sepiapterin formulations (Phase 1/
Lan Gao, Diksha Kaushik, Yi Xia, Kimberly Ingalls, Sarah Milner, Neil Smith, Ronald Kong   +6 more
wiley   +1 more source

State‐of‐the‐art 2023 on gene therapy for phenylketonuria

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 80-92, January 2024.
Abstract Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited (metabolic) liver defect and is, based on murine models that replicate all human pathology, an exemplar model for experimental studies on liver gene therapy.
Michael Martinez, Cary O. Harding, Gerald Schwank, Beat Thöny   +3 more
wiley   +1 more source

Görünür bölge spektrokopisi kullanılarak katı dozaj formundaki sapropterin dihidroklorürün tayini.

, 2019
TSapropterin Dihydrochloride is the synthetic form of tetrahydrobiopterin (BH4) which is cofactor of phenylalanine hydroxylase (PAH) enzyme. For people with phenylketonuria (PKU), oral administration of sapropterin dihydrochloride decrease phenylalanine ...
Arabacı, Burak
core   +1 more source

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

Molecular Genetics and Metabolism, 2014
For pregnant women with phenylketonuria (PKU), maintaining blood phenylalanine (Phe)
Grange, Dorothy K., Hillman, Richard E., Burton, Barbara K., Yano, Shoji, Vockley, Jerry, Fong, Chin-To, Hunt, JoEllen, Mahoney, John J., Cohen-Pfeffer, Jessica L.   +8 more
openaire   +2 more sources

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

, 2021
In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalaninemia,
Çıkı, Kısmet, Özgül, RIZA KÖKSAL, Dursun, Ali, Pektaş, Emine, Yücel Yılmaz, DİDEM, Tokatlı, AYŞEGÜL, Sivri, H Serap, Yıldız, YILMAZ   +7 more
core   +1 more source

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study

, 2013
OBJECTIVE: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU).
Damaj, Lena, A. M. Bosch, V. Leuzzi, Bélanger Quintana, Amaya, Meli, Concetta A P, Blau, N., E. Riva, Cerone, Roberto, Giovannini, Marcello, Keil, Stefanie, A. Belanger Quintana, Anjema, K., Damaj, L., N. Blau, Couce Pico, María Luz, van Spronsen, F., Anjema, Karen, T. Billette de Villemeur, C. A. P. Meli, Couce, Maria L., Bélanger-Quintana, Amaya, Riva, Enrica, K. Anjema, A. Burlina, Giovannini, M., Feillet, F., Lambruschini, Nilo, Couce, L., Lotz-Havla, A., Lotz-Havla, Amelie S, van Spronsen, Francjan J., Billette de Villemeur, Thierry, Meli, C., Leuzzi, V., Bosch, Annet M., Lotz Havla, Amelie S., A. S. Lotz Havla, Keil, S., Kern, Ilse, M. L. Couce, Lotz-Havla, Amelie S., Lambruschini, N., Muntau, Ania C., Kern, I., T. B. De Villemeur, Belanger-Quintana, A., Burlina, Alberto, Bosch, Annet M, Billette De Villemeur, T., Burlina, A., L. Damaj, S. Keil, Feillet, Francois, Riva, E., N. Lambruschini, Cerone, R., F. Feillet, M. Giovannini, de Villemeur, Thierry Billette, Bosch, M., Muntau, Ania C, van Spronsen, Francjan J, Meli, Concetta A. P., A. C. Muntau, R. Cerone, Blau, Nenad, F. J. Van Spronsen, Leuzzi, Vincenzo, Muntau, C., Meli, Concetta A.P., I. Kern, Couce, Maria L   +71 more
core   +1 more source