Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
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.
Proc Eur
Dial
Transplant Assoc Eur Ren Assoc 1985
PMID:Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. 399 73
