Results 1 to 10 of about 7,599 (237)

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

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   +2 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

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

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

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

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

JIMD Reports, 2021
Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results ...
Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen   +16 more
doaj   +1 more source

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

JIMD Reports, 2021
Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol.
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny   +8 more
doaj   +1 more source

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

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

Elektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj   +1 more source