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Article
4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism
We recently identified an erythrocyte nucleotide accumulating in end-stage renal disease as 4-pyridone-3-carboxamide ribonucleotide triphosphate (4PYTP), a nucleotide never described previously. Plasma tryptop...
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Chapter
ADA Activity and dATP Levels in Erythrocytes after Bone Marrow Transplantation
The immediate decrease in red cell dATP and increase in ADA activity post BMT, correlates with the contribution of the non-engrafted donor haematopoietic cells to clearing circulating dAdo by providing functio...
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Chapter
Succinylpurines Induce Neuronal Damage in the Rat Brain
Adenylosuccinase (adenylosuccinate lyase, EC 4.3.2.2: ASase) catalyses two steps in the purine metabolic pathways: a) the eighth step in the de novo pathway of purine synthesis: conversion of succinylaminoimid...
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Chapter
Succinylpurines do not Modify Glutamate or Adenosine Effects in the CNS
Children suffering from deficiency of adenylosuccinase (adenylosuccinate lyase, EC 4.3.2.2: ASase) are normal at birth, but profound psychomotor retardation, the principal symptom of the defect, becomes eviden...
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Chapter
Efficacy of Allopurinol in Ameliorating the Progressive Renal Disease in Familial Juvenile Hyperuricaemic Nephropathy (FJHN)
Familial juvenile hyperuricaemic nephropathy (FJHN) is a dominant disorder with high penetrance (Fig. 1). In the past it has been associated with progressive renal disease in young men, women and children, fre...
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Chapter
Effect of Cladribine, Fludarabine, and 5-AZA-Deoxycytidine on S-Adenosylmethionine (SAM) and Nucleotides Pools in Stimulated Human Lymphocytes
Cladribine (2-chloro-2′-deoxyadenosine, 2CdA) and Fludarabine (9-β-D-arabino-syl-2-fluoro-adenine) are 2-halogenated adenosine analogues which have found clinical application for the treatment of lymphocytic a...
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Chapter
How Should we Treat Tophaceous Gout in Patients with Allopurinol Hypersensitivity?
We studied purine metabolism in gouty patients from three categories: primary gout, familial juvenile hyperuricaemic nephropathy (FJHN) and partial HPRT deficiency.
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Chapter
Plasma Uridine as well as Uric Acid is Elevated Following Fructose Loading
The hyperuricaemia following fructose loading was first demonstrated by Perheen-tupa and Raivio in 1967 (1). Subsequent studies (reviewed in 2) established that this elevation of plasma and urine uric acid con...
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Chapter
Severe Debilitating Polyarticular Gout and Terminal Renal Failure in an Allopurinol ‘Non-Responder’
Due to the availability of effective uricostatic (allopurinol), uricosuric (benzbromarone) and uricolytic (urate-oxidase) agents chronic polyarticular and tophaceous gout has become a very rare disease. The su...
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Article
Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism
Elevated urinary uracil concentrations are characteristic of genetic deficiencies of enzymes catalysing the first two steps of the pyrimidine degradative pathway (Van Gennip et al 1993), dihydropyrimidine dehy...
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Article
Familial renal disease or familial juvenile hyperuricaemic nephropathy?
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Article
When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications
When to suspect and thus investigate for inborn errors of purine and pyrimidine metabolism is a dilemma for even the most observant investigator. Often parents of affected children, or a history involving sibl...
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Article
Preface
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Article
Acute renal failure due to xanthine stones
A 9-month-old child with the skeletal abnormalities of Fuhrmann's syndrome presented with acute renal failure secondary to bilateral renal calculi. Hereditary xanthinuria was shown to be the underlying metabol...
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Article
Heterogeneity of symptomatology in two male siblings with thymine uraciluria
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Article
Identification of a 7-basepair deletion in the adenine phosphoribosyl-transferase gene as a cause of 2,8-dihydroxyadenine urolithiasis
We describe a family of Turkish origin with adenine phosphoribosyltransferase (APRT) deficiency and renal stone disease. The proband had 2,8-dihydroxyadenine urolithiasis but an older sister, who was also defi...
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Article
When and how does one search for inborn errors of purine and pyrimidine metabolism?
Disorders in purine and pyrimidine metabolism may be difficult to recognize because their recent description means many arc little known. They cover a broad spectrum of illnesses, can present from birth to the...
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Chapter
Renal Urate Hypoexcretion in Polynesian Women is not as Severe as in United Kingdom (UK) Women with Familial Juvenile Hyperuricaemic Nephropathy (FJHN)
Polynesians have a predisposition to hyperuricaemia and gout. A number of risk factors have been identified including obesity, hyperglycaemia and hypertriglyceridaemia, however renal disease is not one of the ...
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Article
The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency
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Chapter
Familial Juvenile Hyperuricaemic Nephropathy in Adolescents
Familial juvenile hyperuricaemic nephropathy (FJHN; McKusick 16200) is a disorder characterized by progressive renal disease and gout, affecting young people of either sex equally. Gout and hypertension are in...
