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Chapter
Effect of Galactosamine on Adenine and Uracil Nucleotide Levels in Isolated Hepatocytes of Young and Old Rats
The aging process is associated with changes at cellular and tissue levels which may lead to deterioration of organ functions. Under basal conditions the majority of hepatic functions is well compensated in ag...
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Chapter
Does Low-Dose Allopurinol, with Azathioprine, Cyclosporin and Prednisolone, Improve Renal Transplant Immunosuppression?
This communication reports the results of two studies aimed at improving the immunosuppressive efficacy of azathioprine in renal transplant patients. Although azathioprine has been used in transplantation for ...
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Article
Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency
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Article
Key lectures
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Article
Abstracts of oral presentations
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Article
Abstracts of poster presentations
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Article
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay
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Article
Gout, uric acid and purine metabolism in paediatric nephrology
Although gout and hyperuricaemia are usually thought of as conditions of indulgent male middle age, in addition to the well-known uricosuria of the newborn, there is much of importance for the paediatric nephr...
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Chapter and Conference Paper
Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the pyrimidine bases uracil and thymine and catalyses the degradation of dihydrouracil ...
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Book
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Chapter
Metabolism of endogenous purines
Much of our insight into the importance of specific enzymes governing sequential steps in purine metabolism has derived from the discovery of individuals with an inherited deficiency of one of these enzymes (s...
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Chapter
Raised IMP-Dehydrogenase Activity in the Erythrocytes of a Case of Purine Nucleoside Phosphorylase (PNP) Deficiency
The presenting features of PNP deficiency may be neurological, usually a mild non-progressive spastic diplegia, or related to immunodeficiency which predominantly affects T-lymphocytes. Patients usually die of...
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Chapter
Superactive UMP Hydrolase: Cause or Consequence of Haemolytic Anaemia?
Pyrimidine-5′-nucleotidase (UMP hydrolase 1: UMPH) is a degradative enzyme which is widely distributed in human tissues, including erythrocytes. A deficiency of the enzyme presents clinically as non-sperocytic...
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Chapter
Introduction
Purines play a crucial role in virtually all biological processes. They are of prime importance to Man as the source of cellular energy, ATP and, together with pyrimidines, are the building blocks of the DNA a...
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Chapter
An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC
HPLC has been used extensively in the identification of genetic disorders of purine and pyrimidine metabolism. Some of the problems which may be encountered in assessing patients, for example on high caffeine ...
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Chapter
Purines and the control of renal function
The manner in which the kidney controls the level of purine end-products circulating in body-fluids has been described in Chapter 4. In this chapter we will examine the reverse process: the current concepts re...
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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...
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Chapter
Congenital Chloride Losing Enteropathy Associated with Tophaceous Gouty Arthritis
Congenital chloride losing enteropathy (familial chloride diarrhoea, congenital chloridorrhea)(1) is a recessively inherited disorder which results from a defect in chloride/bicarbonate exchange in the ileum. ...
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Chapter
Purine absorption and excretion
Over a hundred years ago, Garrod (156) speculated that the cause of gout might be “a loss of power . . . temporary or permanent in the uric acid excretory function of the kidney.” Before we can examine the sug...
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Chapter
Nervous system — cellular aspects
Several aspects of the release, localisation or actions of purines are best discussed in conjunction with specific components of nervous system function or behaviour and these are therefore dealt with in the f...
