Abstract
Extract: In one case of a urinary lithiasis, termed “uric lithiasis” on biochemical examination, the authors describe the symptomatology of a child with a complete deficit in adenine phosphoribosyl transferase. After more intensive investigation the calculi have been found to be composed of a new clinical compound: 2,8-hydroxyadenine.
Speculation: A diagnosis of infantile uric lithiasis should be accepted with certain reservations in the absence of a spectrophotometric examination of the calculus.
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Debray, H., Cartier, P., Temstet, A. et al. Child's Urinary Lithiasis Revealing a Complete Deficit in Adenine Phosphoribosyl Transferase. Pediatr Res 10, 762–766 (1976). https://doi.org/10.1203/00006450-197608000-00014
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DOI: https://doi.org/10.1203/00006450-197608000-00014
