Results 31 to 40 of about 69,044 (178)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia [PDF]

Pediatric Research, 1991
Some cases of primary hyperphenylalaninemia are not caused by the lack of phenylalanine hydroxylase, but by the lack of its cofactor tetrahydrobiopterin. These patients are not clinically responsive to a phenylalanine-restricted diet, but need specific substitution therapy. Thus, it became necessary to examine all newborns screened as positive with the
PONZONE A, GUARDAMAGNA O, FERRARIS S, FERRERO GB, COTTON RGH, DIANZANI, Irma   +5 more
openaire   +2 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

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, Alba Cabaleiro, María P. Pata, Marion Peyrou, Ánxela Estévez‐Salguero, Paola Fernández‐Sanmartín, Donald A. Morgan, Vitor Ferreira, Paula Sánchez‐Pintos, Cintia Folgueira, Carlos Diéguez, Adela Urisarri, Ismael González‐García, Luisa M. Seoane, Kamal Rahmouni, Francesc Villarroya, María L. Couce, Rubén Nogueiras, Miguel López   +18 more
wiley   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia

Children, 2022
Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders.
Maria Cristina Risoleo, Margherita Siciliano, Luigi Vetri, Ilaria Bitetti, Anna Di Sessa, Marco Carotenuto, Francesca Annunziata, Daniela Concolino, Rosa Marotta   +8 more
doaj   +1 more source

Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS)

Frontiers in Pharmacology
ObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj   +1 more source

Cognitive and behavioral impairment in mild hyperphenylalaninemia

The Turkish Journal of Pediatrics, 2018
As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe is important for initiation of treatment plans and setting Phe targets in hyperphenlalaninemic patients.
S Gülin Evinç, Ferhunde Öktem, Turgay Coskun, Ayşegül Tokatlı, Ali Dursun, Berrak Bilginer-Gürbüz, Yamaç Karaboncuk, Yılmaz Yıldız, Dilşad Foto-Özdemir, Emine Pektaş, H Serap Sivri   +10 more
doaj   +1 more source

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Yoko Nakajima, Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku   +6 more
wiley   +1 more source

Antioxidant status in hyperphenylalaninemia

Clinica Chimica Acta, 1998
Abnormal oxidative stress was observed in some inborn errors of metabolism owing to the accumulation of toxic metabolites leading to excessive free radical production and to the influence of restricted diets on the antioxidant status. Erythrocyte antioxidant enzymes activities and tocopherol concentrations were measured in a group of phenylketonuric (n
Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol J, Lambruschini N, Cambra FJ, Deulofeu R, Mira A   +8 more
openaire   +4 more sources