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http://purl.uniprot.org/citations/21635362http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21635362http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21635362http://www.w3.org/2000/01/rdf-schema#comment"

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We describe a 2-year-old Japanese boy with radiolucent urolithiasis and recurrent urinary tract infection. Urinalysis showed typical 2,8-dihydroxyadenine (2,8-DHA) crystals, leading to a diagnosis as adenine phosphoribosyltransferase (APRT) deficiency. The sensitivity of proliferating T cells to an adenine analogue, whose cytotoxicity is dependent on APRT, showed that he was homozygous or compound heterozygous for the APRT gene mutation. A genetic analysis revealed a compound heterozygous state for M136T and a novel missense mutation L33P, not previously reported in patients with APRT deficiency.

Conclusion

Adenine phosphoribosyltransferase deficiency should be suspected in all patients with radiolucent kidney stones, urinary 2,8-DHA crystals were an important finding for an early diagnosis of APRT deficiency. Appropriate treatment should be initiated to prevent the development of urolithiasis or renal failure in APRT-deficient children. The T cell method was useful to detect a homozygote or a compound heterozygote of the pathogenic allelic gene in APRT deficiency, and a genetic analysis revealed a novel mutation L33P."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.org/dc/terms/identifier"doi:10.1111/j.1651-2227.2011.02371.x"xsd:string
http://purl.uniprot.org/citations/21635362http://purl.org/dc/terms/identifier"doi:10.1111/j.1651-2227.2011.02371.x"xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Saitoh H."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Saitoh H."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Ichikawa K."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Ichikawa K."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Kamoda T."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Kamoda T."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Nozue H."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Nozue H."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Taniguchi A."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/author"Taniguchi A."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/name"Acta Paediatr."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/name"Acta Paediatr."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/pages"E285-E288"xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/pages"E285-E288"xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/title"A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/title"A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene."xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/volume"100"xsd:string
http://purl.uniprot.org/citations/21635362http://purl.uniprot.org/core/volume"100"xsd:string
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