Results 61 to 70 of about 73,449 (206)

Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria?

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT In early‐treated adults with phenylketonuria (PKU), the effects of elevated phenylalanine (Phe) on functional brain networks remain poorly understood. While subacute structural brain changes have been reported, their functional significance remains unclear.
Vanessa Vallesi, Yosuke Morishima, Laura Winiger, Roman Trepp, Regula Everts, Raphaela Muri   +5 more
wiley   +1 more source

An Overview of Pterin Analysis in Biological Samples: From Occurrence and Properties to Sample Pretreatment Combined With Hyphenated Separation Techniques

Journal of Separation Science, Volume 49, Issue 7, July 2026.
ABSTRACT Pterins are a structurally diverse group of biologically active compounds within the pteridine family, with key roles in pigmentation, redox metabolism, light sensing, and cellular signaling across a wide range of organisms. Their quantification in biological samples is analytically demanding due to their high polarity, chemical instability ...
Jindřich Brejcha, Zuzana Bosakova
wiley   +1 more source

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia

, 1981
The disordered biosynthesis of dopamine, norepinephrine, and serotonin in brain in untreated PKU is corrected by dietary restriction of phenylalanine. Low levels of biogenic amine metabolites were measured in cerebrospinal fluid from three patients with ...
O'Flynn, M E, Seifert, Jr, W E, Howell, R R, Butler, I J   +3 more
core   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Hyperphenylalaninemia: Effect of late treatment in to siblings

, 1975
The effect of late treatment with a low phenylalanine diet on cognitive, motor and social development in two siblings with persistent hyperphenylalaninemia is described.
Koepp, P., Steinhausen, Hans-Christoph, Plettner, C., Grüttner, R.   +3 more
core   +1 more source

Extensive Dysregulation of Phenylalanine Metabolism Is Associated With Stress Hyperphenylalaninemia and 30‐Day Death in Critically Ill Patients With Acute Decompensated Heart Failure

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Stress hyperphenylalaninemia predicts elevated mortality rates in patients with acute decompensated heart failure (ADHF). This study investigated the metabolic pathways underlying this association and identified a unique metabolic phenotype ...
Wei‐Siang Chen, Min‐Hui Liu, Yi‐Liang Tsou, Huang‐Ping Wu, Hsuan‐Ching Lin, Chung‐Yu Liang, Chao‐Hung Wang   +6 more
doaj   +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

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype

Pteridines, 1993
As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau Nenad, Thöny Beat, Heizmann Claus W., Dhondt Jean-Louis   +3 more
doaj   +1 more source

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +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