Comparative metabolism of conjugated and unconjugated pterins in Crithidia, Leishmania and African trypanosomes. [PDF]
PLoS Neglected Tropical DiseasesMammalian cells synthesise tetrahydrobiopterin de novo, an essential cofactor for hydroxylation of aromatic amino acids, cleavage of ether lipids and the synthesis of nitric oxide.
Han B Ong, Susan Wyllie, Alan H Fairlamb
doaj +2 more sources
A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF [PDF]
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 +8 more
wiley +2 more sources
Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review [PDF]
Children, 2023 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat
Lucia Maria Sur +4 more
doaj +2 more sources
Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study [PDF]
ChildrenObjectives: To investigate the clinical value of cerebrospinal fluid (CSF) testing for biogenic amine, pterins, amino acids, and folates in paediatric onset epilepsies. Methods: Retrospective clinical and biochemical phenotyping of patients with epilepsy
Mario Mastrangelo +6 more
doaj +2 more sources
Pterin-Based Red Coloration Predicts the Outcome of Male–Male Competition in Guinan Toad-Headed Lizard [PDF]
AnimalsAnimal coloration offers a unique opportunity to explore the evolutionary mechanisms underlying phenotypic diversity. Conspicuous coloration caused by pigments plays a crucial role in social signaling across multiple species by conveying information ...
Xiao Xiao +8 more
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Aicardi‐Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant‐Negative Effect of the ADAR1 c.3019G>A Variant [PDF]
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Aicardi–Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous ADAR1 NM_001111.5:c.3019G>A variant causing AGS6.
Katerina Turan +11 more
wiley +2 more sources
Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein [PDF]
Clinical and Translational Science, Volume 19, Issue 4, April 2026.ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Lan Gao, Neil Smith, Ronald Kong
wiley +2 more sources
Segawa Syndrome, a Dramatic Response to Dopamine [PDF]
Case Reports in Neurological MedicineSegawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive ...
Omkar Dhungel +4 more
doaj +2 more sources
Pterin-based pigmentation in animals [PDF]
Biology Letters, 2021 Pterins are one of the major sources of bright coloration in animals. They are produced endogenously, participate in vital physiological processes and serve a variety of signalling functions. Despite their ubiquity in nature, pterin-based pigmentation has received little attention when compared to other major pigment classes.
Pedro Andrade, Miguel Carneiro
openaire +2 more sources
The urinary biopterin in autism spectrum disorder
Pteridines, 2021 The aim of the study was to determine whether biopterin is present in significantly lower quantities in urine samples of patients with autism spectrum disorder (ASD) compared to healthy individuals.
Waligóra Aleksandra +4 more
doaj +1 more source