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Chapter
A New Cause of Urinary Calculi: 2,8-Dihydroxyadenine Stones in Supposed ‘Uric Acid’ Crystalluria
Most stones found in the human urinary tract are formed from common urinary constituents: calcium oxalate, calcium phosphate and ammonium magnesium phosphate. In situations of dehydration, aciduria or uric aci...
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Chapter
Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family
The study of inborn errors of purine metabolism in man has led to a better understanding of the latter. Deficiencies of enzymes involved in the purine reutilization pathways mainly concern the hypoxanthine-gua...
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Chapter
Purine Excretion in Complete Adenine Phosphoribosyltransferase Deficiency: Effect of Diet and Allopurinol Therapy
Partial adenine phosphoribosyltransferase (APRTase) deficiency has been considered hitherto as relatively benign in that the only detectable abnormality of purine metabolism has been hyperuricaemia varyingly a...
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Chapter
Immunological Evaluation of a Family Deficient in Adenine Phosphoribosyl Transferase (APRT)
The recent finding of immunodeficiency associated with inherited defects of purine metabolism has led to an intensive study of the latter in lymphocytes.Information can be gained from two sources: analysis of ...
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Chapter
Spectrum of 2,8-Dihydroxyadenine Urolithiasis in Complete APRT Deficiency
The identification of 2,8-dihydroxyadenine (2,8-DHA), a uric acid analogue characterised by its extreme insolubility, as the principal component of so-called ‘uric acid’ stones in a young male child, was origi...
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Chapter
Inheritance of Adenine Phosphoribosyltransferase (APRT) Deficiency
Recognition of the importance of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the control of purine metabolism lead to systematic investigations of the companion purine salvage enzyme, ...
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Chapter
2, 8-Dihydroxyadeninuria: Or When is a Uric Acid Stone not a Uric Acid Stone?
Purine nucleotides important for normal cellular metabolism are derived endogenously from de novo synthesis and also from recycling of pre-formed purines via the so-called salvage pathway (Figure 1). The latter p...
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Chapter
Influence of Purine Content of Diet and Allopurinol on Uric Acid and Oxalate Excretion Levels
A defect of the purine salvage enzyme adenine phosphoribosyl-transferase (APRT) results in lithiasis in some but not all homozygotes for the defect. The stones are frequently mistaken for uric acid1, but are real...
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Chapter and Conference Paper
‘Uric Add’ Stones in Children: Problems of Diagnosis and Treatment in a New Defect— Adenine Phosphoribosyltransferase Deficiency
Uric acid stones generally represent less than 10% of all renal stones in most adult populations. Stones per se are rare in childhood. In some instances a metabolic basis in purine metabolism may be identified...
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Chapter and Conference Paper
Immunologically Mediated Tubulointerstitial Nephritis
Various experimental studies have shown that tubulo-interstitial nephritis (TIN) may be mediated by auto-antibodies directed against components of the tubular basement membranes (TBM), but the mechanisms of th...
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Chapter
Allopurinol and Dietary Purine Affect Urinary Uric Acid but not Urinary Oxalate Levels
Previously, we and others showed that the ingestion of a non-specific high-purine diet by healthy subjects increased not only urinary uric acid, but urinary oxalate levels as well. Significant reductions in bo...
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Chapter
Long-Term Evolution of Type 1 Adenine Phosphoribosyltransferase (APRT) Deficiency
There are two types of inherited adenine phosphoribosyltransferase (APRT) deficiency: type I (APRT*Qo) in which enzyme activity is practically undetectable and which is seen predominantly in Caucasians, and ty...