Results 1 to 10 of about 1,393 (127)

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory records (6/2018–05/2023) to compare comorbidities, healthcare resource utilization, and healthcare costs
Longo N, Burton BK, Vaghela S, Mu F, Wang A, Smith J, Reichert E, Simpson RB, Sikirica V, Perera S.   +9 more
europepmc   +2 more sources

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria [PDF]

Children
Patients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration.
Ana Jaqueline Nunes, Bianca Fasolo Franceschetto, Lisiane da Gama, Soraia Poloni, Lilia Farret Refosco, Tassia Tonon, Vaneisse Monteiro, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, François Maillot, Ida Vanessa Doederlein Schwartz   +10 more
doaj   +2 more sources

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
ABSTRACT Phenylketonuria (PKU) is an inherited metabolic disorder causing elevated phenylalanine (Phe) levels and neurocognitive impairment if left untreated. While dietary therapy remains the treatment standard, adherence declines during adolescence. Pegvaliase, an injectable enzyme therapy approved for adults > 18 years in the United States, lowers ...
Hollander S, Valli B, Vucko E, Lah M, Sanchez-Valle A, Murray BM, Kritzer A, Sacharow S.   +7 more
europepmc   +2 more sources

Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria. [PDF]

J Inherit Metab Dis
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kitayama K, Sakaguchi T, Nakano N, Kabata D, Shintaku H, Hamazaki T.   +5 more
europepmc   +2 more sources

Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS) [PDF]

Frontiers in Pharmacology
ObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj   +2 more sources

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein. [PDF]

Clin Transl Sci
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Gao L, Smith N, Kong R.
europepmc   +2 more sources

Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria [PDF]

Molecular Therapy: Nucleic Acids
Low in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez, Daelyn Y. Richards, Shelley R. Winn, Adrian M. Baris, Anne Vonada, Laura Harper, Cary O. Harding   +6 more
doaj   +2 more sources

Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study. [PDF]

Microbiologyopen
This study showed that Family XIII AD3011 group was associated with reduced Phe levels, providing important evidence to reveal the interaction between gut microbiota and Phe levels, and providing a scientific basis for the development of personalized diet and nutrition recommendations for PKU patients.
Liu Z, Ye M, Jin H, Chen W, Jieens H, Han R.   +5 more
europepmc   +2 more sources

Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial. [PDF]

JIMD Rep
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Nakajima Y, Ishige M, Ito T, Hamazaki T, Kuwahara M, Lee L, Shintaku H.   +6 more
europepmc   +2 more sources

Personalized Genotype-Based Approach for Treatment of Phenylketonuria. [PDF]

J Inherit Metab Dis
Modeling the residual enzyme activity of PAH genotypes allows for personalized prediction of patient phenotype and BH4‐treatment response. ABSTRACT Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of ...
Gundorova P, Yousefi B, Woidy M, Rose-Heine MS, Khatri R, Kasten V, Bonn S, Muntau AC, Gersting SW.   +8 more
europepmc   +2 more sources