Results 61 to 70 of about 1,551 (187)

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran

Molecular Genetics and Metabolism Reports, 2015
To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in ...
Aria Setoodeh, Bahram Yarali, Ali Rabbani, Shohreh Khatami, Sedigheh Shams   +4 more
doaj   +1 more source

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

The first study of successful pregnancies in Chinese patients with Phenylketonuria

BMC Pregnancy and Childbirth, 2020
Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen   +9 more
doaj   +1 more source

Genetic etiology and clinical challenges of phenylketonuria

Human Genomics, 2022
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 ...
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara   +11 more
doaj   +1 more source

Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism responsible for an accumulation of phenylalanine, which leads to cognitive and developmental disorders if left untreated. Most studies of adult PKU focus on neuropsychiatric complications, but new questions have been raised about systemic manifestations of PKU in adulthood.
Yann Dos Santos, Patrick Emond, Ida Vanessa Doederlein Schwartz, Antoine Lefèvre, Camille Dupuy, Gabrielle Chicheri, Hélène Blasco, François Maillot   +7 more
wiley   +1 more source

Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review

Journal of Pediatric and Neonatal Individualized Medicine, 2020
Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low ...
Florentina Moldovanu, Radu Bogdan Calin, Micaela Iuliana Nanu, Marina Ruxandra Otelea   +3 more
doaj   +1 more source

Recommendations for the use of sapropterin in phenylketonuria

Molecular Genetics and Metabolism, 2012
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for
Cunningham, Amy, Bausell, Heather, Brown, Mary, Chapman, Maggie, DeFouw, Kari, Ernst, Sharon, McClure, Julie, McCune, Helen, O'Steen, Donna, Pender, Amy, Skrabal, Jill, Wessel, Ann, Jurecki, Elaina, Shediac, Renée, Prasad, Suyash, Gillis, Jane, Cederbaum, Stephen   +16 more
openaire   +2 more sources

Additional file 2 of Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at

, 2021
Additional file 2: Table S2. Blood Phe levels in patients with treatment-emergent hypophenylalaninaemia.
Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S., Lane, Paul, Alvarez, Ignacio, Rutsch, Frank   +12 more
openaire   +1 more source

Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association ...
Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker   +6 more
wiley   +1 more source

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Orphanet Journal of Rare Diseases, 2023
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or ...
Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh   +7 more
doaj   +1 more source