Results 61 to 70 of about 1,393 (127)

Navigating social determinants of health barriers in the management of phenylketonuria

Molecular Genetics and Metabolism Reports
Phenylketonuria (PKU) is an inborn error of amino acid metabolism that is typically identified by newborn screening. With lifelong treatment consisting of dietary management, frequent laboratory monitoring, and regular metabolic clinic visits, patients ...
Ashley Andrews, Kate McMinimee
doaj   +1 more source

Phenylketonuria in Brazil: a narrative review on treatment and public policies regarding patient and family demands [PDF]

Brazilian Journal of Food Technology
Phenylketonuria (PKU) is an autosomal recessive disorder that affects phenylalanine metabolism and, if left untreated, leads to severe intellectual disability, behavioral problems, cognitive impairments, and other dysfunctions. This study aimed to assess
Daniele Cristina da Silva Napoli, Kaciane Andreola, Maria Teresa Bertoldo Pacheco   +2 more
doaj   +2 more sources

Changing dietary practices in phenylketonuria

The Turkish Journal of Pediatrics, 2009
In recent years, there has been much focus on research on non-dietary treatments in phenylketonuria (PKU). However, diet is likely to remain the major treatment for many years to come, since it has continued to be developed and consistent ...
Anita Macdonald, Hülya Gökmen-Ozel, Anne Daly   +2 more
doaj  

Increased Reactive Oxygen Species Generation Contributes to the Atherogenic Activity of the B2 Bradykinin Receptor

Frontiers in Medicine, 2019
Atherosclerosis and ensuing cardiovascular disease are major causes of death with insufficient treatment options. In search for pathomechanisms of atherosclerosis, we investigated the impact of the B2 bradykinin receptor, Bdkrb2, on atherosclerotic ...
Alexander Perhal, Stefan Wolf, Yahya F. Jamous, Andreas Langer, Joshua Abd Alla, Ursula Quitterer, Ursula Quitterer   +6 more
doaj   +1 more source

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.

PLoS ONE, 2016
BackgroundPhenylketonuria (PKU) is due to a defective hepatic enzyme, phenylalanine (Phe) hydroxylase. Transport of the precursor amino acids from blood into the brain for serotonin and dopamine synthesis is reported to be inhibited by high blood Phe ...
Shoji Yano, Kathryn Moseley, Xiaowei Fu, Colleen Azen   +3 more
doaj   +1 more source

Computational analysis of the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in TYR gene impacting human tyrosinase protein and the protein stability.

PLoS ONE
Tyrosinase, a copper-containing oxidase, plays a vital role in the melanin biosynthesis pathway. Mutations in the tyrosinase gene can disrupt the hydroxylation of tyrosine, leading to decreased production of 3,4-dihydroxyphenylalanine (DOPA ...
Wei Fan, Heng Li Ji, Mohibullah Kakar, Shabbir Ahmed, Hussah M Alobaid, Yasmeen Shakir   +5 more
doaj   +1 more source

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Heliyon
Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity.
Shuyao Zhu, Qi Hu, Yunxia Yang, Hui Zhu, Jin Wang, Zemin Luo, Mincai Ou, Ai Chen, Yu Huang, Fu Xiong, Jiaji Zhou, Jinglin Liu, Xunming Lei, Lan Zeng   +13 more
doaj   +1 more source

P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment

Genetics in Medicine Open, 2023
Charles Lourenco, Regina Albuquerque, Lilian Sansao, Renan Campi, Debora Tomaz, Jacqueline Fonseca   +5 more
doaj   +1 more source

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Molecular Genetics and Metabolism Reports
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson   +8 more
doaj   +1 more source

Protein and Micronutrient Intake After Two Years of Sapropterin Treatment in PKU. [PDF]

Nutrients
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +1 more source