Results 21 to 30 of about 766 (123)

Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature

Egyptian Journal of Medical Human Genetics
Background Molybdenum cofactor deficiency (MoCD) is a rare genetic disease primarily affecting the nervous system. While xanthinuria is a typical feature of MoCD, xanthine stones have been rarely described.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Rofaida M. Magdy, Mohammed Fawzy Fouad, Tarek M. M. Mansour, Eman Fathalla Gad, Elsayed Abdelkreem   +6 more
doaj   +2 more sources

Pure xanthine pediatric urolithiasis: A cause of acute renal failure

Urology Case Reports, 2021
Xanthine urolithiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines if diagnosed early.
Musab Umair, Syed Zafar Hussain, Afra Khan, Badar Murtaza, Omer Farooq Rehman, Muhammad Nawaz   +5 more
doaj   +1 more source

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl‐AMP (S‐AMP) to AMP.
Rousselot-Pailley B, Semeraro M, Marquant F, Robel L, Gitiaux C, Kaminska A, Mochel F, Bakouboula P, Elie C, Hennequin C, Ceballos-Picot I, Sanquer S, de Lonlay P.   +12 more
europepmc   +2 more sources

Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia

Biomedicines, 2022
Renal hypouricemia is a disease caused by the dysfunction of renal urate transporters. This disease is known to cause exercise-induced acute kidney injury, but its mechanism has not yet been established.
Daisuke Miyamoto, Nana Sato, Koji Nagata, Yukinao Sakai, Hitoshi Sugihara, Yuki Ohashi, Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, Ken Okamoto   +9 more
doaj   +1 more source

Candidate causative variant for xanthinuria in a Domestic Shorthair cat

Animal Genetics, Volume 54, Issue 4, Page 576-580, August 2023., 2023
Abstract Xanthinuria is a clinically significant form of urolithiasis in cats with poor clinical outcomes and limited treatment options. In humans, xanthinuria has an autosomal recessive mode of inheritance, with variants in xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS) responsible for cases.
Emily Pritchard, Georgina Samaha, Kim Mizzi, Lara Boland, 99Lives Consortium, Bianca Haase   +5 more
wiley   +1 more source

Purinergic signaling and purine base metabolism at the crossroads between immunity, metabolism, and cancer: A review

ImmunoMedicine, Volume 3, Issue 1-2, June/December 2023., 2023
Abstract In addition to its universally known role in transferring genetic material, DNA nucleotides and nucleosides are regarded as the most ancient form of extracellular signaling molecules. This unique signaling pathway was first reported by Dr. Albert Szent‐Györgyi in 1937 and established by Dr.
Delaney K. Geitgey, Anja J. Melendez, Raquel Caldeira‐Botelho, Melissa L. Kemp, Curtis J. Henry   +4 more
wiley   +1 more source

Xanthinuria secondary to allopurinol treatment in dogs with leishmaniosis: current perspectives of the Iberian veterinary community

, 2022
Research Areas: Immunology ; Microbiology ; Veterinary SciencesXanthinuria is a significant adverse effect in dogs on long-term allopurinol for treatment of leishmaniosis.
Leal, Rodolfo, Silvestrini, Paolo, Arenas, Carolina, Dominguez-Ruiz, Marina, Roura, Xavier, Jesus, Laura, Englar, Ryane E., Rodolfo Oliveira Leal, Xavier Roura, Marina Domínguez-Ruiz, Ryane E. Englar, Carolina Arenas, Paolo Silvestrini, Laura Jesus   +13 more
core   +1 more source

Evaluation of the Relationship Between Serum Urate Levels, Clinical Manifestations of Gout, and Death From Cardiovascular Causes in Patients Receiving Febuxostat or Allopurinol in an Outcomes Trial

Arthritis &Rheumatology, Volume 74, Issue 9, Page 1593-1601, September 2022., 2022
Objective To investigate whether serum urate levels, number of gout flares, and tophi burden are related to death from cardiovascular (CV) causes after treatment with febuxostat or allopurinol in patients with gout from the Cardiovascular Safety of Febuxostat or Allopurinol in Patients With Gout and Cardiovascular Comorbidities (CARES) trial.
Kenneth G. Saag, Michael A. Becker, William B. White, Andrew Whelton, Jeffrey S. Borer, Philip B. Gorelick, Barbara Hunt, Majin Castillo, Lhanoo Gunawardhana, on behalf of the CARES Investigators, Eric Lloyd, Simon Wigfield, Lauren Gwynne, Danielle Johnson   +13 more
wiley   +1 more source

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt

JIMD Reports, 2020
Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity.
Hava Peretz, Michael Korostishevsky, David M. Steinberg, Mustafa Kabha, Sali Usher, Irit Krause, Hannah Shalev, Daniel Landau, David Levartovsky   +8 more
doaj   +1 more source

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders

Journal of Inherited Metabolic Disease, Volume 45, Issue 4, Page 682-695, July 2022., 2022
Abstract Untargeted metabolomics (UM) allows for the simultaneous measurement of hundreds of metabolites in a single analytical run. The sheer amount of data generated in UM hampers its use in patient diagnostics because manual interpretation of all features is not feasible. Here, we describe the application of a pathway‐based metabolite set enrichment
Brechtje Hoegen, Juliet E. Hampstead, Udo F.H. Engelke, Purva Kulkarni, Ron A. Wevers, Han G. Brunner, Karlien L. M. Coene, Christian Gilissen   +7 more
wiley   +1 more source