Document Detail


Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.
MedLine Citation:
PMID:  420519     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a third case of 2, 8-dihydroxyadenine stones in a child with a complete lack of the adenine salvage enzyme--adenine phosphoribosyltransferase (APRT). The propositus, a 20-month-old girl of consanguineous Arab parents, presented with multiple urinary tract infections and supposed 'uric acid' stones in the right renal pelvis and left ureter. Both parents and one brother were heterzygotes for the defect, in keeping with an autosomal recessive mode of inheritance. In contrast with the other purine salvage enzyme disorder of childhood with true uric acid stones (the Lesch-Nyhan syndrome), uric acid excretion was normal in all family members. As in our previous case, treatment with allopurinol, without alkali, has eliminated the urinary excretion of 2, 8-dihydroxyadenine: the stones were removed surgically. 2, 8-Dihydroxyadenine should be considered in any child thought to have uric acid stones and tests made to distinguish the two compounds.
Authors:
T M Barratt; H A Simmonds; J S Cameron; C F Potter; G A Rose; D G Arkell; D I Williams
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  54     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1979 Jan 
Date Detail:
Created Date:  1979-04-25     Completed Date:  1979-04-25     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  25-31     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adenine / analysis
Adenine Phosphoribosyltransferase / deficiency*
Adult
Allopurinol / therapeutic use
Child
Diagnosis, Differential
Female
Humans
Infant
Kidney Calculi / genetics*,  metabolism,  therapy
Male
Pedigree
Pentosyltransferases / deficiency*
Purines / urine
Chemical
Reg. No./Substance:
0/Purines; 315-30-0/Allopurinol; 73-24-5/Adenine; EC 2.4.2.-/Pentosyltransferases; EC 2.4.2.7/Adenine Phosphoribosyltransferase
Comments/Corrections

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