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Article

Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2010

Iwaki Takuma, Kusaka Takashi, Ohashi Ikuko, Nishida Tomoko, Imai Tadashi, Itoh Susumu

Abstract excerpt

Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound...

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Source

Identifiers

PMID: 20101413
DOI: 10.1007/s00467-009-1430-4

Genes

APRT

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

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Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.PMID 20101413Read ↗

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 ↗

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

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

Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

Germline and somatic mutations leading to adenine phosphoribosyltransferase (APRT) deficiency.Semantic proximity Read ↗

Adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

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

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