MOCOS‐associated renal syndrome in a Brown Swiss cattle [PDF]
Journal of Veterinary Internal Medicine, 2023 Background A recessive form of MOCOS‐associated xanthinuria type II is described in Tyrolean grey cattle. A similar case was identified in a 5‐month‐old Brown Swiss calf with hoof overgrowth, rough coat, urine sediment, and pneumonia.
Joana G. P. Jacinto +7 more
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Potential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease [PDF]
AntioxidantsThe majority of naturally occurring mutations of the human gene XDH, are associated with reduced or completely absent xanthine oxidoreductase (XOR) activity, leading to a disease known as classical xanthinuria, which is due to the accumulation and ...
Gianmichele Massimo +4 more
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Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report [PDF]
BMC Urology, 2023 Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai +11 more
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Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs [PDF]
Molecular Genetics and Metabolism Reports, 2021 Hereditary xanthinuria is a rare autosomal recessive disease caused by missense and loss of function variants in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes.
Nicole M. Tate +7 more
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Identification of Primary Hyperoxaluria Type III by Gas Chromatography/Mass Spectrometry-Based Urine Metabolomics [PDF]
MetabolitesObjectives: Primary hyperoxaluria type III (PH3) causes kidney stones in children and adults. Gas chromatography/mass spectrometry (GC/MS)-based metabolomics has been applied to study patients with primary hyperoxaluria types I and II, 2,8 ...
Tomiko Kuhara +4 more
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Xanthine urolithiasis: Inhibitors of xanthine crystallization. [PDF]
PLoS ONE, 2018 OBJECTIVE:To identify in vitro inhibitors of xanthine crystallization that have potential for inhibiting the formation of xanthine crystals in urine and preventing the development of the renal calculi in patients with xanthinuria.
Felix Grases +3 more
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Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat [PDF]
Journal of Feline Medicine and SurgeryCase series summary Four confirmed cases of xanthinuria in cats, and one suspected case based on pedigree analysis, were identified. Clinical presentations varied and included haematuria, pollakiuria, dysuria, and urethral and ureteral obstruction.
Emily C Pritchard +8 more
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XDH-1 inactivation causes xanthine stone formation in Caenorhabditis elegans which is inhibited by SULP-4-mediated anion exchange in the excretory cell. [PDF]
PLoS BiologyXanthine dehydrogenase (XDH) is a molybdenum cofactor (Moco) requiring enzyme that catabolizes hypoxanthine into xanthine and xanthine into uric acid, the final steps in purine catabolism.
Jennifer Snoozy +8 more
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Review of childhood genetic nephrolithiasis and nephrocalcinosis [PDF]
Frontiers in GeneticsNephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden.
Ashley M. Gefen, Joshua J. Zaritsky
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Cellular Physiology and Biochemistry, 2015 Background: Hypouricemia is caused by various diseases and disorders, such as hepatic failure, Fanconi renotubular syndrome, nutritional deficiencies and genetic defects.
Yunan Zhou +11 more
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