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Article

Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.

Internal medicine (Tokyo, Japan) - 1 Jan 1998

Inagaki K, Muraoka A, Suehiro I, Fujii M, Ueno H, Hosooka T, Kida K, Murakami K

Abstract excerpt

A 30-year-old woman was admitted to our hospital because of recurrent ureterolithiasis. She was suspected of having adenine phosphoribosyltransferase (APRT) deficiency based on the presence of 2,8-dihydroxyadenine (DHA) crystals in her urinary sediment, infrared spectrophotometric analysis of the excreted stone, and then the definitive diagnosis by gene analysis. A pedigree study indicated only a slight...

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Identifiers

PMID: 9510404
DOI: 10.2169/internalmedicine.37.69

Genes

APRT

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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.

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Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.PMID 9510404Read ↗

Adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

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

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

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

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

Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).Semantic proximity Read ↗

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

Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system.Semantic proximity Read ↗

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

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