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Article

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

Acta paediatrica (Oslo, Norway : 1992) - 1 Dec 2011

Nozue Hiroki, Kamoda Tomohiro, Saitoh Hisako, Ichikawa Kunio, Taniguchi Atsuo

Abstract excerpt

UNLABELLED: 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...

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Source

Identifiers

PMID: 21635362
DOI: 10.1111/j.1651-2227.2011.02371.x

Genes

APRT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.PMID 21635362Read ↗

[Adenine phosphoribosyltransferase(APRT) deficiency].Semantic proximity Read ↗

Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.Semantic proximity Read ↗

[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].Semantic proximity Read ↗

Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.Semantic proximity Read ↗

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.Semantic proximity Read ↗

[2,8-dihydroxyadenine urolithiasis: case report and literature review].Semantic proximity Read ↗

[Genotype and genetic diagnosis of APRT deficiency].Semantic proximity Read ↗

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].Semantic proximity Read ↗

Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.Semantic proximity Read ↗

Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.Semantic proximity Read ↗

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