Urolithiasis in a Large Kindred Deficient in Adenine Phosphoribosyltransferase (Aprt)

Gault, M. H.; O’Toole, Timothy E.; Wilson, James M.; Payne, R. H.; Ittel, T. H.; Simmons, Andrew; Churchill, David; Morgan, James W.

doi:10.1007/978-1-4684-7272-1_2

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Deficiency Of Adenine Phosphoribosyl Transferase (Aprt)2

Xanthinuria1

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1987

1990

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Cited by 2 publications

(3 citation statements)

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“…APRT deficiency is inherited as an autosomal recessive trait [84,109,110]. Heterozygotes have erythrocyte APRT activity of 25-28% of normal but do not suffer from urolithiasis, and urinary excretion of 2,8 dihydroxyadenine is normal [11 0].…”

Section: Deficiency Of Adenine Phosphoribosyl Transferase (Aprt)mentioning

confidence: 99%

“…A linkage between the APRT locus and the HP A gene that determines the alpha subunit of haptoglobin has been established [113]. The distance between these two loci on chromosome 16 has been estimated to be 27.5 centimorgans [110]. Therapy for patients with APRT deficiency includes a high fluid intake, a diet low in purines, and allopurinol to reduce the production of 2,8 dihydroxyadenine ( figure 15-1).…”

Section: Deficiency Of Adenine Phosphoribosyl Transferase (Aprt)mentioning

confidence: 99%

“…Clinical manifestations of xanthinuria include urolithiasis, myopathy, and polyarthritis [88]. Approximately 30% -50% of patients with xanthinuria have urolithiasis [110]. Xanthine oxidase activity ranges from 0%-25% of normal.…”

Section: Xanthinuriamentioning

confidence: 99%

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