Results 1 to 10 of about 73,449 (206)

Micronutrient in hyperphenylalaninemia [PDF]

Data in Brief, 2015
The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein ...
Vanesa Crujeiras, Luís Aldámiz-Echevarría, Jaume Dalmau, Isidro Vitoria, Fernando Andrade, Iria Roca, Rosaura Leis, Ana Fermandez-Marmiesse, María L. Couce   +8 more
doaj   +5 more sources

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 ...
Bahram Yarali, Shohreh Khatami, Ali Rabbani   +2 more
exaly   +4 more sources

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation [PDF]

Metabolites
Background/Objectives: Skeletal impairment has been reported as a common finding in Hyperphenylalaninemia (HPA)/Phenylketonuria (PKU) patients regardless of age and method of diagnosis, both in children and adults.
Albina Tummolo, Giada De Ruvo, Marta Di Nicola, Vito Di Tullio, Livio Melpignano, Donatella De Giovanni, Rosa Carella   +6 more
doaj   +2 more sources

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

Metabolites, 2020
Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy.
Carlo Dionisi-Vici, Ilaria Cicalini, Claudia Rossi   +2 more
exaly   +3 more sources

Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review

Frontiers in Genetics, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Yun Chen, Kaiyu Liu, Zailan Yang, Yaozhou Wang, Hao Zhou   +4 more
doaj   +1 more source

Gene mutations in children with phenylalanine hydroxylase deficiency: an analysis of 45 cases in some regions of Chongqing

Di-san junyi daxue xuebao, 2021
Objective To explore the gene mutation frequency and characteristics of phenylalanine hydroxylase (PAH) in PAH deficiency children in some regions of Chongqing in order to provide scientific reference for the diagnosis and treatment of the disease ...
WANG Dongjuan, ZHANG Juan, LIU Hao, YANG Jing, WAN Kexing, YUAN Zhaojian, YU Chaowen, ZHANG Dayong, LIU Shan, ZOU Lin   +9 more
doaj   +1 more source

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan

International Journal of Neonatal Screening, 2021
Phenylketonuria (PKU) and hyperphenylalaninemia (HPA), both identified in newborn screening, are attributable to variants in PAH. Reportedly, the p.R53H(c.158G>A) variant is common in patients with HPA in East Asia.
Shino Odagiri, Daijiro Kabata, Shogo Tomita, Satoshi Kudo, Tomoko Sakaguchi, Noriko Nakano, Kouji Yamamoto, Haruo Shintaku, Takashi Hamazaki   +8 more
doaj   +1 more source

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

Journal of Inborn Errors of Metabolism and Screening, 2021
Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services.
Isabel Ibarra-González, Cynthia Fernández-Lainez, Sara Guillén-López, Lizbeth López-Mejía, Leticia Belmont-Martínez, Rosa Itzel Nieto-Carrillo, Marcela Vela-Amieva   +6 more
doaj   +1 more source

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

Frontiers in Genetics, 2022
Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico ...
M. Vela-Amieva, M. A. Alcántara-Ortigoza, I. Ibarra-González, A. González-del Angel, L. Fernández-Hernández, S. Guillén-López, L. López-Mejía, R. I. Carrillo-Nieto, M. O. Fiesco-Roa, M. O. Fiesco-Roa, C. Fernández-Lainez   +10 more
doaj   +1 more source

A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia

Frontiers in Neuroscience, 2021
We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism.
Colm J. McGinnity, Daniela A. Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Christopher Symeon, Helen Walker, Helen Walker, Sally F. Barrington, Mary Summers, Mervi Pitkanen, Mervi Pitkanen, Yusof Rahman   +12 more
doaj   +1 more source