Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with clearly developed features of the full Lesch-Nyhan syndrome and complete lack of activity of hypoxynthine-phosphoribosyltransferase is described. The clinical picture was characterized by absence of spasticity, good control of autoaggression by behavior therapy, and no signs of renal insufficiency. After death, which was caused by a viral infection, pathological examination and a search for material immunologically cross-reacting with hypoxanthine-phosphoribosyltransferase were possible. In spite of increased serum urate levels and raised urinary uric acid excretion there were no signs of urate deposits or damage in the internal organs, including the kidneys. Crossreactive material was found in the liver, kidneys and spleen, a relatively rare finding in the full Lesch-Nyhan-syndrome. The absence of any specific pathological changes in the brain of this patient is in agreement with earlier reports.
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PMID:Pathological and immunological observations in a case of Lesch-Nyhan-syndrome. 49 64

Six generations of a Japanese family had gouty arthritis and progressive nephropathy. Data on nine of 51 women (18%) and 15 of 66 men (23%) with either asymptomatic hyperuricaemia, gouty arthritis, or renal insufficiency were obtained. Renal function in four men and one woman with hyperuricaemia or gouty arthritis was also examined. Urinary excretion of uric acid was decreased in all subjects examined, including the young. Erythrocyte phosphoribosylpyrophosphate synthetase and hypoxanthine-guanine phosphoribosyltransferase activities determined in 10 patients were normal. Some patients had been treated with allopurinol to reduce serum uric acid concentrations, but the treatment did not prevent progression of renal impairment. Transmission of the disease in this large family is considered to be autosomal dominant. The data suggest that the disease in this family is the same entity as that described by other workers--that is, familial urate nephropathy. As far as is known this is the largest family with this disease so far reported.
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PMID:Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family. 184 94

A 6-month-old infant presented with failure to thrive, hyperuricaemia and renal insufficiency. The hyperuricaemia was due to uric acid over-production. The level of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was found to be normal. However, a two-fold increase in the Km of the enzyme to hypoxanthine as well as in the Vmax values was observed. It seems therefore, that in cases of uric acid over-production, screening tests of HGPRT activity may be insufficient and additional kinetic properties of the enzyme should be tested.
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PMID:Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy. 342 93

This report concerns a three month old infant who was failing to thrive. Renal insufficiency was demonstrated and attributed to aortic coarctation. However, surgical correction of the coarctation failed to correct the renal insufficiency completely and disproportionate hyperuricemia was noted. Excessive urinary excretion of uric acid was found and a moderate deficiency (6% of normal) of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) was demonstrated. When the urate over-production was corrected with allopurinol, renal function returned to normal and the child became well. The importance of over-production of urate and the resultant excessive urinary excretion of uric acid as a treatable cause of acute or persistent renal insufficiency is stressed.
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PMID:Renal failure in infancy due to over-production of urate. 659 54

Hyperuricemia and secondary urate nephropathy are uncommon in the paediatric setting outside of tumour lysis syndrome. We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calculi 9 years later. This, and the availability of the previously unknown family history, provided the subsequent diagnosis of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Detailed family history is important for early detection of this heterogeneous group of disorders. Early treatment may minimise long-term renal morbidity and mortality from renal insufficiency.
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PMID:Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure. 1624 Jan 58