Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.4.2.7 (adenine phosphoribosyltransferase)
 692 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A deficiency of adenine phosphoribosyltransferase (APRT) enzyme activity to approximately 40% of normal has been found in erythrocytes from a young woman aged 24 years, who had suffered from recurrent gouty arthritis since 11 years of age. She also demonstrated considerable, although asymptomatic, renal impairment with a creatinine clearance of one-third normal. Her father had suffered from gouty arthritis but had a normal APRT activity; he was obese, had a high purine intake and was a regular beer drinker. The patient's mother was asymptomatic with a normal serum urate concentration, but demonstrated a similar reduction in APRT activity to that of her daughter. Eleven other asymptomatic members of the family also demonstrated a similar reduction in APRT activity in erythrocyte lysates. The pattern of inheritance was consistent with autosomal transmission. Concentrations of phosphoribosylpyrophospate (PRPP) in erythrocytes were within normal limits both in the subjects with deficient, and in those with normal, APRT activity. Partial purification of APRT enzyme from erythrocytes of the index case did not reveal any difference from the normal enzyme as far as Michaelis constants, heat stability, or mobility in polyacrylamide gel was concerned. No primary abnormality of lipoprotein metabolism was demonstrated either in the propositus or in other members of her family. Study of urate metabolism in the propositus indicated that, although urate production was within the normal range in absolute terms, there was increased incorporation of glycine into produced urate, usually taken as one index of de novo urate production. Impaired renal excretion of urate was also shown. Although detailed study of urate metabolism has not been undertaken in other family members with APRT deficiency, no conclusive relationship has yet been demonstrated between APRT deficiency and disordered urate metabolism.
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PMID:Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. 106 47

Light microscopy of the urinary sediment from a child suffering from urinary tract disease showed massive crystalluria. Most of the sediment consisted of characteristic round and brownish crystals. 2,8-Dihydroxyadenine was identified in the crystals by means of gas chromatography-mass spectrometry. The diagnosis of adenine phosphoribosyltransferase deficiency was established by the finding of a very low activity of this enzyme in erythrocytes from the patient, and of half the normal activity in the patients. The patient was first treated with a diet low in purine and with a high liquid intake. She stayed symptomless on this regimen, but the crystalluria persisted. On low doses of allopurinol the crystalluria disappeared.
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PMID:Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals. 311 37

We treated two children with 2,8-dihydroxyadenine urolithiasis for over 7 years. The male prepositus was admitted to the hospital because of anuria when he was 10 months old. Bilateral urinary stones had caused the anuria. The stones were 2,8-dihydroxyadenine and his APRT activity was low. He has been treated with about 5.0 mg/kg/day of allopurinol without purine diet restriction. His sister, 3 years old at that time, also was found to have a renal stone. She has been treated with about 3.3 mg/kg/day of allopurinol without restricting purine. The allopurinol therapy without purine-restriction resulted in normal growth of both children with neither the recurrence of stone nor renal impairment.
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PMID:[Two siblings with 2,8-dihydroxyadenine urolithiasis]. 786 62

A 30-year-old woman was admitted to our hospital because of recurrent ureterolithiasis. She was suspected of having adenine phosphoribosyltransferase (APRT) deficiency based on the presence of 2,8-dihydroxyadenine (DHA) crystals in her urinary sediment, infrared spectrophotometric analysis of the excreted stone, and then the definitive diagnosis by gene analysis. A pedigree study indicated only a slight possibility of this disease in the family. From these results, we consider that urinary sediment and stone analysis should be used for screening while gene analysis should be employed for definitive diagnosis of APRT deficiency, so that the complications of this condition can be prevented.
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PMID:Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. 951 Apr 4

Here we report a case of a 2,8-dihydroxyadenine (2,8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effective. Transurethral ureterolithotripsy (TUL) was successful. An analysis of the stone revealed 2,8-DHA. A 2,8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency. By genetic tests, she was diagnosed with APRT deficiency.
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PMID:[A Case Report of 2,8-Dihydroxyadenine Stone]. 2627 13