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 three week old boy presented with pneumonia, weight loss, metabolic acidosis and renal failure (serum creatinine 3.1 mg/100 ml, uric acid 11.5 mg/100 ml). Renal biopsy revealed severe crystal nephropathy. Low activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in erythrocytes and fibroblasts suggested a partial deficiency of the enzyme. A family study proved the mother to be heterozygous and the maternal grandfather to be hemizygous for HPRT deficiency. The grandfather developed gouty nephropathy and uraemia. The propositus was treated with allopurinol and kept on low purine diet and high fluid intake with sodium bicarbonate. Thereafter GFR gradually improved. At the age of two and a half years, growth and psychomotor development were normal, but ultrasound examination still revealed a dense renal parenchyma. Partial HPRT deficiency is a newly recognised treatable form of renal failure in the newborn.
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PMID:Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. 399 73

Hypoxanthine phosphoribosyltransferase (HPRT) deficiency is an inherited disorder. Complete deficiency of HPRT activity is phenotypically expressed as the devastating Lesch-Nyhan syndrome. Partial HPRT deficiency usually causes hyperuricemia, precocious gout, and uric acid nephrolithiasis. We describe an 18-year follow-up of a 5-year old boy with partial HPRT deficiency and report a novel mutation in his HPRT gene. He presented with overproduction of uric acid and passage of uric acid renal stones, and without gout or neurological and behavioral abnormalities. Treatment with allopurinol, adequate hydration, urinary alkalization, and a low-purine diet was started. No subsequent nephrolithiasis has occurred. After 18-year of this therapy his physical and neuropsychological status were normal, merely his glomerular filtration rate (GFR, normal 97-137 mL min(-1)/1.73 m(2)) fell from normal to 65.1 mL min(-1). The most likely cause of initial renal impairment in our patient is uric and/or xanthine crystalluria. A missense and transition mutation 169A>G (57ATG>GTG, 57met>val) in exon 3 of the patient's HPRT gene was identified and the mother was the carrier of the mutation. As far as we are aware, the identified mutation has not previously been reported. We named the mutant HPRT Maribor.
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PMID:Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. 1596 71