Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

Zannolli, Raffaella

doi:10.1136/jmg.40.11.e121

Cited by 31 publications

(17 citation statements)

References 20 publications

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“…The first two disorders are clinically recognizable and distinct, while the latter is unlikely in the absence of gross disturbance of biochemical profile. Zannolli et al [2003] reported an 11-year-old boy with hereditary xanthinuria type II associated with nephrolithiasis and behavioral impairment, in which there is low plasma and urinary uric acid, and hematuria. This disorder was excluded from the patients in this report.…”

Section: Discussionmentioning

confidence: 97%

“…These conditions are typically associated with characteristic biochemical findings. Nephrocalcinosis with central nervous system or behavioral impairment may occur in Williams syndrome [Pober et al, 1993], Beckwith-Wiedmann syndrome [Goldman et al, 2003], and in xanthinuria type II [Zannolli et al, 2003]. We describe a possible new syndrome in which distal RTA with nephrocalcinosis accompany neurobehavioral dysfunction, short stature, and distinctive facial appearance in a consanguineous Arab family with four affected siblings.…”

Section: Introductionmentioning

confidence: 87%

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Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

Faqeih¹,

Al-Akash²,

Sakati³

et al. 2007

American J of Med Genetics Pt A

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We report on four siblings (three males, one female) born to first cousin Arab parents with the constellation of distal renal tubular acidosis (RTA), small kidneys, nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial features. They presented with early developmental delay with subsequent severe mental, behavioral and social impairment and autistic-like features. Their facial features are unique with prominent cheeks, well-defined philtrum, large bulbous nose, V-shaped upper lip border, full lower lip, open mouth with protruded tongue, and pits on the ear lobule. All had proteinuria, hypercalciuria, hypercalcemia, and normal anion-gap metabolic acidosis. Renal ultrasound examinations revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. Additional findings included dilated ventricles and cerebral demyelination on brain imaging studies. Other than distal RTA, common causes of nephrocalcinosis were excluded. The constellation of features in this family currently likely represents a possibly new autosomal recessive syndrome providing further evidence of heterogeneity of nephrocalcinosis syndromes.

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Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 87%

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

Faqeih¹,

Al-Akash²,

Sakati³

et al. 2007

American J of Med Genetics Pt A

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“…AOX gene is located on 2q33 locus. [10] Clinically their manifestations are almost the same, and discrimination between these two types can be realized only with allopurinol loading test. Allopurinol is metabolized into oxypurinol with AOX enzyme.…”

Section: Discussionmentioning

confidence: 99%

Classical xanthinuria: a rare cause of pediatric urolithiasis

Akıncı

Çakıl

Öner³

2013

Turkish Journal of Urology

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Xanthine dehydrogenase catalyzes the oxidation of hypoxanthine to xanthine and xanthine to uric acid in the final two steps of the purine degradation process. Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation, and classical xanthinuria. A ten-month-old boy presented with a sevenmonth history of nausea, vomiting, discomfort during urination, gross hematuria and passage of stones. His renal and liver function test results and electrolytes were within normal limits, but serum and urine uric acid levels were undetectable. Ultrasonographic evaluation of the urinary tract revealed the presence of multiple bilateral renal stones. Renal stones were analyzed using an X-ray diffractometer, and were found to be composed of hypoxanthine-xanthine. High fluid intake, alkalinization and a low-purine diet were prescribed, and extracorporeal shock wave lithotripsy was performed. Recurrent renal stone formation was not observed during 18 months of follow-up. This case is reported to highlight the nature of this rare condition.

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“…Homologues of this gene were subsequently found to be mutated in xanthinuria type II in both bovine and human [11,12]. Consistent with the more general role of mal in the formation of molybdoenzymes, xanthinuria type II is characterized by combined xanthine dehydrogenase and aldehyde oxidase deficiency, and can produce more severe phenotypes than xanthine dehydrogenase deficiency alone [13]. In addition, metabolic variations between two wild‐type strains Oregon R (OR) and Canton S (CS), which are deemed to be genetically equivalent, and the Chocolate ( cho ) mutant, in which the genetic lesion is unidentified, were also studied.…”

Section: Introductionmentioning

confidence: 97%

Towards a platform for the metabonomic profiling of different strains of Drosophila melanogaster using liquid chromatography–Fourier transform mass spectrometry

et al. 2009

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A platform based on hydrophilic interaction chromatography in combination with Fourier transform mass spectrometry was developed in order to carry out metabonomics of Drosophila melanogaster strains. The method was able to detect ∼ 230 metabolites, mainly in the positive ion mode, after checking to eliminate false positives caused by isotope peaks, adducts and fragment ions. Two wild‐type strains, Canton S and Oregon R, were studied, plus two mutant strains, Maroon Like and Chocolate. In order to observe the differential expression of metabolites, liquid chromatography‐mass spectrometry analyses of the different strains were compared using sieve 1.2 software to extract metabolic differences. The output from sieve was searched against a metabolite database using an Excel‐based macro written in‐house. Metabolic differences were observed between the wild‐type strains, and also between both Chocolate and Maroon Like compared with Oregon R. It was established that a metabonomic approach could produce results leading to the generation of new hypotheses. In addition, the structure of a new class of lipid with a histidine head group, found in all of the strains of flies, but lower in Maroon Like, was elucidated.

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Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

Abstract: No astract availabl

Cited by 31 publications

References 20 publications

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

Classical xanthinuria: a rare cause of pediatric urolithiasis

Towards a platform for the metabonomic profiling of different strains of Drosophila melanogaster using liquid chromatography–Fourier transform mass spectrometry

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