Results 41 to 50 of about 1,393 (127)
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 +4 more
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Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria
MedComm, Volume 7, Issue 6, June 2026.In phenylketonuria (PKU), elevated phenylalanine (Phe) increases hepatic fibroblast growth factor 21 (FGF21) and thyroid hormones, enhancing brown adipose tissue (BAT) thermogenesis in patients. Central FGF21 reproduces this phenotype in rodents via reduced hypothalamic AMP‐activated protein kinase (AMPK) activity in the ventromedial nucleus of the ...
Noemí López‐Rey +18 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 +9 more
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Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA‐MS/MS), are laboratory and sample transport‐dependent, leading to delays in obtaining results. This
Corentin Gondrand +14 more
wiley +1 more source
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
The Turkish Journal of Pediatrics, 2015 Sapropterin enhances phenylalanine hydroxylase activity, thus lowering blood phenylalanine (Phe) concentration while increasing protein tolerance in sapropterin-responsive patients.
Özlem Ünal +8 more
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New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride
Biologics: Targets & Therapy, 2010 Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
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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 +3 more
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Clinical and Translational Science, Volume 19, Issue 5, May 2026.ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
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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 +11 more
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Molecular Genetics and Metabolism Reports, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Zoë Hawks +5 more
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