Type I Xanthinuria

01/01/1983 - "In order to study the effects of raising the hypoxanthine concentration in plasma on its metabolism and renal handling, the effects of intense exercise have been investigated in a patient with xanthine oxidase deficiency. "
01/01/1970 - "The quantitative determination of hypoxanthine and xanthine ("oxypurines") in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria)."
10/01/1969 - "1. The presence of hypoxanthine and xanthine in the skeletal muscle of two patients with congenital xanthine oxidase deficiency (xanthinuria) was demonstrated by high-resolution mass spectrometry. "
10/01/1969 - "The mass-spectrometirc identification of hypoxanthine and xanthine ('oxypurines') in skeletal musce from two patients with congenital xanthine oxidase deficiency (xanthinuria)."
12/10/1982 - "Hypoxanthine concentrations three to ten times higher than those determined in plasma were found in erythrocyte samples from normal subjects and from patients with xanthine oxidase deficiency or hyperuricemia under allopurinol therapy."

11/01/2021 - "Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I."
11/01/2016 - "A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase."
08/01/2015 - "Xanthinuria type I with a novel mutation of xanthine dehydrogenase."
01/01/2013 - "Xanthinuria Type I is caused by mutations in the xanthine dehydrogenase gene (XDH). "
12/24/2012 - "Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child."

11/01/2016 - "Xanthinuria type I was diagnosed following the allopurinol loading test. "
12/24/2012 - "We have identified an Afghan girl whose xanthinuria could be classified as type I xanthinuria based on an allopurinol loading test. "
08/01/2010 - "The allopurinol loading test demonstrated type I xanthinuria. "
02/01/2007 - "Despite this, the heterozygous mutation, the chemical findings, and the positive allopurinol test altogether prove xanthinuria type I, which may present wide clinical intrafamilial variation. "
12/01/1983 - "Allopurinol metabolism in a patient with xanthine oxidase deficiency."

01/01/1970 - "The quantitative determination of hypoxanthine and xanthine ("oxypurines") in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria)."
10/01/1969 - "1. The presence of hypoxanthine and xanthine in the skeletal muscle of two patients with congenital xanthine oxidase deficiency (xanthinuria) was demonstrated by high-resolution mass spectrometry. "
10/01/1969 - "The mass-spectrometirc identification of hypoxanthine and xanthine ('oxypurines') in skeletal musce from two patients with congenital xanthine oxidase deficiency (xanthinuria)."
01/01/2018 - "Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine, leading to urolithiasis. "
12/24/2012 - "Xanthinuria due to xanthine dehydrogenase (XDH) deficiency is a rare genetic disorder characterized by hypouricemia and the accumulation of xanthine in the urine. "

12/01/2010 - "Urate concentration in serum and urine may provide an initial indication of XDH deficiency before high-performance liquid chromatography (HPLC) analysis is performed. "
05/01/1999 - "[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]."
01/01/2018 - "Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine, leading to urolithiasis. "
09/06/2017 - "Low uric acid concentrations in serum and low urinary fractional excretion of uric acid associated with high urinary excretion of xanthine and hypoxanthine were compatible with xanthine oxidase deficiency. "
12/01/1996 - "Underproduction of urate is caused by xanthine dehydrogenase deficiency, purine nucleoside deficiency and allopurinol treatment. "

08/01/2010 - "There are two types of the disorder: type I results from xanthine dehydrogenase (XDH) deficiency, while type II is characterized by lack of both XDH and aldehyde oxidase activity. "
11/01/2011 - "The deficit in XOR can be isolated (type I xanthinuria) or associated with a deficit in aldehyde oxidase (type II xanthinuria) and sulfite oxidase (type III xanthinuria). "
09/14/1993 - "The aldehyde oxidase may also play a major role in the oxidation of allopurinol and pyrazinamide in the subgroup of xanthinuria patients (xanthine oxidase deficiency) who can oxidize both allopurinol and pyrazinamide."
11/21/2012 - "Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR) due to genetic defect in the molybdenum cofactor sulfurase. "
11/01/2016 - "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). "

02/01/1993 - "A high fluid, low purine intake is the only possible therapy for XDH deficiency."
12/10/1982 - "This method was applied to the investigation of purine metabolism in subjects with xanthine oxidase deficiency or gout. "
03/01/2010 - "Hereditary xanthinuria type I, a defect of purine metabolism, results from a genetic deficiency of xanthine oxidase. "
12/01/2010 - "Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases have been described in the literature so far. "
02/01/2007 - "Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine oxidoreductase or dehydrogenase (XDH) deficiency. "

01/01/1982 - "Biologically, this condition is characterised by secondary hypo-uricemia and hypo-uricuria due to xanthine oxidase deficiency and by sulphituria, resulting from sulphite oxidase deficiency. "
01/01/1978 - "Xanthine oxidase deficiency was demonstrated in a jejunal biopsy specimen, whereas the excretion of sulphur containing substances was considered to be characteristic of sulphite oxidase deficiency. "
11/01/2011 - "The deficit in XOR can be isolated (type I xanthinuria) or associated with a deficit in aldehyde oxidase (type II xanthinuria) and sulfite oxidase (type III xanthinuria). "
05/01/2010 - "Within 1 to 2 weeks, all urinary markers of sulfite oxidase (sulfite, S-sulfocysteine, thiosulfate) and xanthine oxidase deficiency (xanthine, uric acid) returned to almost normal readings and stayed constant (>450 days of treatment). "

01/18/2012 - "The allopurinol loading test confirmed xanthinuria type I. The xanthine oxidase activities in patients were 0 and 0.4 pmol/h/mL of plasma. "
03/01/2010 - "Hereditary xanthinuria type I, a defect of purine metabolism, results from a genetic deficiency of xanthine oxidase. "
01/18/2012 - "The article describes the clinical, biochemical, enzymological and molecular genetics findings in two patients from two families with xanthinuria type I. Biochemical analysis using high performance liquid chromatography, allopurinol loading test and analysis of xanthine oxidase activity in plasma and of uromodulin excretion in urine were performed. "
02/01/2001 - "To investigate the properties of xanthine dehydrogenase/xanthine oxidase (XDH/XO) deficiency in a patient with atypical type I xanthinuria, as indicated by oxypurine data, a cDNA sequence encoding XDH, XDH/XO immunoblot analysis and a competitive PCR assay were performed, and the results were compared with those of normal subjects. "

11/01/1986 - "[Sulfite and xanthine oxidase deficiency: a diagnosis based on 2 simple tests]."
11/01/1986 - "[Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor]."
05/01/2010 - "Within 1 to 2 weeks, all urinary markers of sulfite oxidase (sulfite, S-sulfocysteine, thiosulfate) and xanthine oxidase deficiency (xanthine, uric acid) returned to almost normal readings and stayed constant (>450 days of treatment). "

01/01/1981 - "Acute lymphocytic leukemia in a child with congenital xanthine oxidase deficiency: implications for therapy."
02/01/1993 - "A high fluid, low purine intake is the only possible therapy for XDH deficiency."
12/10/1982 - "Hypoxanthine concentrations three to ten times higher than those determined in plasma were found in erythrocyte samples from normal subjects and from patients with xanthine oxidase deficiency or hyperuricemia under allopurinol therapy."

06/10/1995 - "[Hematotoxicity caused by azathioprine genetically determined and aggravated by xanthine oxidase deficiency in a patient following renal transplantation]."