Results 1 to 10 of about 538,734 (195)

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency [PDF]

Frontiers in Neurology, 2021
In phenylalanine hydroxylase (PAH) deficiency, an easily feasible method to access the progression of neurodegeneration is warranted to contribute to current discussions on treatment indications and targets.
Amelie S. Lotz-Havla, Katharina Weiß, Katharina Schiergens, Stephanie Regenauer-Vandewiele, Klaus G. Parhofer, Tara Christmann, Luise Böhm, Joachim Havla, Joachim Havla, Esther M. Maier   +9 more
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Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish [PDF]

Molecular Genetics and Metabolism Reports, 2018
In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community.
Jessica Scott Schwoerer, Nicoletta Drilias, Ashley Kuhl, Sean Mochal, Mei Baker   +4 more
doaj   +5 more sources

Concurrent Phenylalanine Hydroxylase–Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management [PDF]

Annals of Internal Medicine: Clinical Cases
Comorbid nutritional disorders can present with clinical management challenges. Phenylalanine hydroxylase (PAH) deficiency and celiac disease are both associated with dietary protein intolerance, yet they are different disorders.
Jade Jensen, Erin Merritt, Bukola A. Olarewaju, Judy B. Tejon, Misha B. Asif, Brendan C. Lanpher, Mayowa A. Osundiji   +6 more
doaj   +4 more sources

Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic

Journal of Inborn Errors of Metabolism and Screening, 2017
Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years.
Janet Thomas MD, Mina Nguyen-Driver PsyD, Heather Bausell RD, LDN, Jane Breck MD, Javier Zambrano MD, Vanessa Birardi PharmD   +5 more
doaj   +4 more sources

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant [PDF]

Chinese Medical Journal, 2015
To the Editor: Tandem mass spectrometry (MS/MS)-based expanded newborn screening was first introduced in Pediatric Endocrinology/Genetics of Xin Hua Hospital in 2003. The screening is expected to detect genetic disorders leading to a secondary increase in blood phenylalanine (Phe) in newborns.[1] We reported a rare case in a Chinese infant with ...
Jun Ye, Wen-Juan Qiu, Lian-Shu Han, Hui-Wen Zhang, Xue-Fan Gu   +4 more
doaj   +3 more sources

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province [PDF]

Frontiers in Genetics, 2023
Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbance of
Baitao Zeng, Baitao Zeng, Qing Lu, Qing Lu, Shaohong Chen, Huizhen Guan, Huizhen Guan, Xiaolan Xu, Xiaolan Xu, Yongyi Zou, Yongyi Zou, Feng Wang, Feng Wang, Shuhui Huang, Shuhui Huang, Yanqiu Liu, Yanqiu Liu, Bicheng Yang, Bicheng Yang   +18 more
doaj   +2 more sources

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood.
Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis   +7 more
doaj   +2 more sources

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study [PDF]

JIMD Reports
Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency ...
Nataliya Yuskiv, Ammar Saad, Beth K. Potter, Sylvia Stockler‐Ipsiroglu, John J. Mitchell, Steven Hawken, Kylie Tingley, Michael Pugliese, Monica Lamoureux, Andrea J. Chow, Jonathan B. Kronick, Kumanan Wilson, Annette Feigenbaum, Sharan Goobie, Michal Inbar‐Feigenberg, Julian Little, Saadet Mercimek‐Andrews, Amy Pender, Chitra Prasad, Andreas Schulze, Yannis Trakadis, Gloria Ho, Hilary Vallance, Valerie Austin, Anthony Vandersteen, Andrea C. Yu, Cheryl Rockman‐Greenberg, Aizeddin A. Mhanni, Pranesh Chakraborty   +28 more
doaj   +2 more sources

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

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
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Phenylalanine–tyrosine–catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies [PDF]

Frontiers in Molecular Biosciences
Disorders of the phenylalanine–tyrosine–catecholamine axis are a clinically relevant group of neurometabolic conditions in which pathogenic variants in key enzymes impair dopamine and norepinephrine biosynthesis.
Martina Isabella Armas Samaniego, Martina Isabella Armas Samaniego, Benjamin Arias-Almeida, Andrés León-Piñeiros, Jorge G. Figueroa, Andrea Vargas-Freire, Melissa López, Natalí Solano-Cueva, Juan Carlos Collantes, María de Lourdes Huiracocha-Tutiven, Gabriele Davide Bigoni-Ordóñez, Juan Carlos Pozo-Palacios, Vanessa Romero   +12 more
doaj   +2 more sources