Sepiapterin reductase deficiency

Results 31 to 40 of about 553,208 (143)

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment

Acta Pediátrica de México, 2014
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin ...
Mercedes Martínez-Pardo
doaj +1 more source

Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency [PDF]

Neurology, 2020
A 42-year-old man, born of consanguineous parents, presented with long-standing severe, nonepileptic jerky movements of the upper body, pronounced during the second half of the day and improving after sleep (video, A and B). There was a history of neurodevelopmental disorder with axial hypotonia, delayed milestones, intellectual disability, and poor ...
Tina Mainka +4 more
openaire +2 more sources

Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria. [PDF]

J Inherit Metab Dis
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kitayama K +5 more
europepmc +2 more sources

Fragment-based discovery of novel potent sepiapterin reductase inhibitors

, 2019
Genome-wide-association studies in chronic low back pain patients identified sepiapterin reductase as a high interest target for developing new analgesics.
Alen, Jo (author) +8 more
core +3 more sources

Endothelial deficiency of sepiapterin reductase in hypertension and its impact on sepiapterin as an eNOS‐recoupling agent

The FASEB Journal, 2006
DOCA salt‐induced hypertension is associated with oxidation of tetrahydrobiopterin (H4B) and uncoupling of eNOS. We sought to examine whether administration of H4B precursor sepiapterin restores eNOS function. Bioavailable NO detected by electron spin resonance (ESR) was markedly reduced in aortas of DOCA‐salt hypertensive mice.
John Blair +3 more
openaire +1 more source

Proteo‐transcriptomic insights into the venom composition of the ectoparasitoid Eupelmus urozonus

Pest Management Science, EarlyView.
Integrated venom‐gland transcriptomics and venom proteomics of Eupelmus urozonus identified 316 venom proteins, including 75 secreted candidates, revealing diverse hydrolases, proteases/inhibitors and many uncharacterized effectors. Abstract BACKGROUND Ectoparasitoid venoms are ‘cocktails’ of bioactive molecules injected during oviposition to paralyze ...
Federica De Stefano +7 more
wiley +1 more source

Global Proteomic Analysis of Sperm and Seminal Plasma From Tropically‐Adapted Rams With Contrasting Parameters of Frozen‐Thawed Semen

Molecular Reproduction and Development, Volume 93, Issue 10, October 2026.
ABSTRACT The aim of this study was to characterize the proteome of sperm and seminal plasma (SP) from rams with high semen freezability (HF) and low semen freezability (LF). Eleven ejaculates were collected from 12 rams, at 3‐day intervals, and cryopreserved (132 semen samples).
Wallisson Bruno de Morais Pacheco +14 more
wiley +1 more source

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Global Medical Genetics
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142.
Janhawi Kelkar, Miriam DiMaio, Deqiong Ma, Hui Zhang +3 more
doaj +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +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 +9 more
wiley +1 more source