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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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Article
THE RENIN-ANGIOTENS IN-ALDOSTERONE SYSTEM IN HEALTHY INFANTS AND CHILDREN
Previous investigations have shown that, in healthy children, active renin values, measured as plasma renin activity (PRAact), and plasma aldosterone (PA) values are increased when compared to adult values. No co...
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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
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
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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Article
Peculiar dysmorphic syndrome with orthochromatic leucodystrophy
In 1968, Hooftet al. reported in three siblings a new syndrome with non-congenital microcephaly, a peculiar appearance with strikingly large ears, a severe mental retardation, a progressive optic atrophy and spas...
