Abstract
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.
MeSH terms
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Adenine Phosphoribosyltransferase / deficiency*
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Blood Urea Nitrogen
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Child, Preschool
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Humans
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Hydrogen-Ion Concentration
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Male
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Pedigree
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Pentosyltransferases / deficiency*
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Recurrence
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Spectrophotometry
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Uric Acid / blood
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Urinary Calculi / blood
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Urinary Calculi / enzymology*
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Urinary Calculi / genetics
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Urine / analysis
Substances
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Uric Acid
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Pentosyltransferases
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Adenine Phosphoribosyltransferase