A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle Renal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular .1881delG and c.1782delG), located in an 11 Mb region of homozygosity on BTA 24. Pathogenic variants in MOCOS have previously been associated with inherited metabolic syndromes and xanthinuria in different species including Japanese Black cattle. Genotyping of two additional clinically suspicious cases confirmed the association with the MOCOS variant, as both animals had a homozygous mutant genotype
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase Hereditary hypouricemia is generally caused by renal hypouricemia, an autosomal recessive disorder that is characterized by impaired renal tubular uric acid transport, or by xanthinuria, a rare autosomal recessive disorder caused by a deficiency of xanthine dehydrogenase (XDH; xanthinuria type I) or by a deficiency of both XDH and aldehyde oxidase (xanthinuria type II). In contrast to renal hypouricemia, which sometimes leads to exercise-induced acute kidney injury (EIAKI), xanthinuria has not been associated with this disorder. We report here a case of xanthinuria type I due to a compound heterozygous mutation. A 46-year-old woman was found to have undetectable plasma and urinary levels of uric acid. She had
hyperoxaluria. Magnesium ammonium phosphate ('triple phosphate') stones indicate bacterial infection.Cystine stones indicate cystinuria.Xanthine stones indicate xanthinuria or treatment with allopurinol.Stones that do not dissolve in acid are usually factitious.REFERENCE: Coe FL et al.N Engl J Med 1992; 327: 1141-1152.Tiselius HG et al. Eur Urol 2001; 40(4): 362-3671. GO BACK TOGGLE NAVIGATIONSearchRCPA
Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report. Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported. In this study, we report a case of cystinuria with xanthine stones and hyperuricemia. The 23-year-old male patient was diagnosed with kidney
of brief communication and walking without or with support. Molybdenum cofactor deficiency is a rare disease. Most cases had severe phenotypes and poor outcomes, but some cases may have mild phenotype. MoCD-B caused by MOCS2 gene variants may manifest as Leigh-like syndrome with a normal psychomotor development before the trigger of infection strike. Hypouricemia, xanthinuria and hypoxanthinuria can
or decreasing the tubular reabsorption. For example, anticancer agents increase the filtered load of uric acid and glucocorticoids increase the filtered load of calcium. Allopurinol increases the filtered load of xanthine in patients with tumor lysis to produce xanthinuria. Furosemide decreases tubular calcium reabsorption, leading to increased urine calcium concentration.Third, the drug may alter urine pH
cause of radiolucent kidney stones in children. Several products of purine metabolism are relatively insoluble and can precipitate when urinary pH is low. These include 2- or 8-dihydroxyadenine, adenine, xanthine, and uric acid. The crystals of uric acid may initiate calcium oxylate precipitation in metastable urine concentrates (see Xanthinuria).Uric acid stones. View Media Gallery The terms gouty
in renal stellate cell-specific RNA interference knockdown in otherwise normal flies, confirming a renal etiology. This phenotype was abolished in mutant flies (which model human xanthinuria) and by the xanthine oxidase inhibitor allopurinol, suggesting that the calculi were of uric acid. This was confirmed by direct biochemical assay for urate. Stones rapidly dissolved when the tubule was bathed
differences over time or between groups. During the study, 12 dogs in the allopurinol group developed xanthinuria (41%) compared to no dogs (0%) in the supplement group (P=0.000). Both treatments led to significantly increased CD4+/CD8+ ratio, and improvements in protein electrophoretic pattern and acute phase response. In conclusion, 6-month oral treatment with nucleotides and AHCC in addition to MGA showed similar efficacy to the current first-line treatment for CanL, without producing xanthinuria. This combination could be a good alternative to MGA-allopurinol combination treatment for CanL, especially for dogs suffering allopurinol-related adverse events.
concentration in the embryo. Remarkably, xanthine accumulates to similar levels in the xdh mutant without toxicity. This is paralleled in humans, where hyperuricemia is associated with many diseases whereas xanthinuria is asymptomatic. Searching for the molecular cause of uric acid toxicity, we discovered a local defect of peroxisomes (glyoxysomes) mostly confined to the cotyledons of the mature embryos
Deficiency and Molybdenum Cofactor Deficiency * FDA Drug Approvals, Neurology — 2021 Midyear Review * FDA Approvals, Highlights, and Summaries: Neurology * Xanthinuria * FDA Drug Approvals, Pediatrics — 2021 Midyear Review * FDA Drug Approvals, Family Medicine — 2021 Midyear Review * FDA Drug Approvals, Internal Medicine — 2021 Midyear Review Medscape Consult News & Perspective * Neonatal
Deficiency * FDA Drug Approvals, Neurology — 2021 Midyear Review * FDA Approvals, Highlights, and Summaries: Neurology * Xanthinuria * FDA Drug Approvals, Pediatrics — 2021 Midyear Review * FDA Drug Approvals, Family Medicine — 2021 Midyear Review * FDA Drug Approvals, Internal Medicine — 2021 Midyear Review Medscape Consult News & Perspective * Neonatal Seizures: Diagnosis, Etiologies
Deficiency * FDA Drug Approvals, Neurology — 2021 Midyear Review * FDA Approvals, Highlights, and Summaries: Neurology * Xanthinuria * FDA Drug Approvals, Pediatrics — 2021 Midyear Review * FDA Drug Approvals, Family Medicine — 2021 Midyear Review * FDA Drug Approvals, Internal Medicine — 2021 Midyear Review Medscape Consult News & Perspective * Neonatal Seizures: Diagnosis, Etiologies