Characterisation and Evaluation of Predisposing Factors for the Development of Xanthinuria in Dogs With Leishmaniosis Under Allopurinol Therapy [PDF]
Parasites and VectorsBackground Allopurinol, one of the drugs routinely used to treat canine leishmaniosis (CanL), is an inhibitor of the enzyme xanthine oxidase, which plays a fundamental role in purine metabolism.
Rodolfo O Leal, Marina Domínguez-Ruiz
exaly +3 more sources
Association of Mutations Identified in Xanthinuria With the Function and Inhibition Mechanism of Xanthine Oxidoreductase [PDF]
Biomedicines, 2021 Xanthine oxidoreductase (XOR) is an enzyme that catalyzes the two-step reaction from hypoxanthine to xanthine and from xanthine to uric acid in purine metabolism.
Kimiyoshi Ichida +2 more
exaly +4 more sources
Identification of a New Mutation in the Human Xanthine Dehydrogenase Responsible for Xanthinuria Type I [PDF]
Advances in Laboratory Medicine / Avances En Medicina De Laboratorio, 2021 Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a ...
Susana Romero Santos +1 more
exaly +3 more sources
Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics [PDF]
IJU Case Reports, 2023 Introduction Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug‐induced toxicity.
Tomiko Kuhara +7 more
doaj +2 more sources
The hitchhiker’s guide to feline xanthinuria [PDF]
Journal of Feline Medicine and SurgeryFeline xanthinuria is a rare autosomal recessive disorder of purine metabolism due to genetic mutations in the xanthine dehydrogenase ( XDH ) gene. It is characterised by excessive excretion and accumulation of xanthine in the urine, which can lead to ...
Michelle M Kim +5 more
doaj +2 more sources
Chronic kidney disease and reduced renal COX2 expression in xanthinuria: a case-control study [PDF]
BMC NephrologyBackground Xanthinuria is a rare inherited metabolic disorder caused by xanthine dehydrogenase (XDH) deficiency, leading to excessive urinary xanthine excretion. It is associated with kidney stones and, in exceptional cases, renal failure.
Marie-Hélène Normand +4 more
doaj +2 more sources
Clinical and genetic analysis of MOCOS gene-related hypouricemia [PDF]
Frontiers in GeneticsBackgroundUric acid is an important metabolic end-product in the human body, and metabolic abnormalities involving uric acid are receiving increasing attention.MethodsThis study involved clinical assessment and genetic testing of a 40-year-old male ...
Huifang Peng +7 more
doaj +2 more sources
Hypouricemia and Urate Transporters [PDF]
Biomedicines, 2022 Hypouricemia is recognized as a rare disorder, defined as a serum uric acid level of 2.0 mg/dL or less. Hypouricemia is divided into an overexcretion type and an underproduction type.
Naoyuki Otani +4 more
doaj +2 more sources
Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice [PDF]
Scientific ReportsIn most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. In contrast, all Xdh(− / −) mice die due to renal failure before reaching adulthood
Kazuki Terada +6 more
doaj +2 more sources
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects [PDF]
Biomedicines, 2021 Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the ...
Hava Peretz +18 more
doaj +2 more sources