Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase

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 c...

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Bibliographic Details
Published inPediatric research Vol. 10; no. 8; pp. 762 - 766
Main Authors Debray, H, Cartier, P, Temstet, A, Cendron, J
Format Journal Article
LanguageEnglish
Published United States 01.08.1976
Subjects
Adenine Phosphoribosyltransferase - deficiency
Blood Urea Nitrogen
Child, Preschool
Humans
Hydrogen-Ion Concentration
Male
Pedigree
Pentosyltransferases - deficiency
Recurrence
Spectrophotometry
Uric Acid - blood
Urinary Calculi - blood
Urinary Calculi - enzymology
Urinary Calculi - genetics
Urine - analysis
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0031-3998
1530-0447
DOI:10.1203/00006450-197608000-00014