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

To the now 17 case reports in caucasian patients of an urolithiasis in a rare purine metabolism disorder 2,8-dihydroxyadeninuria due to missing activity of adenine phosphoribosyltransferase 3 further cases are presented. Firstly, a monozygotic twin pair is afflicted (13-year-old boys). All calculi be composed of pure 2,8-DHA, except a mixed calculus in a 38-year-old man containing of 80% 2,8-DHA and 20% calcium oxalate. The actual literature is reviewed.
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PMID:[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases]. 223 80