Search
APRT deficiency (2,8-dihydroxyadenine urolithiasis)
Genetics:
- autosomal recessive
- associated with defects in APRT
Clinical manifestations:
- nephrolithiasis (2,8-dihydroxyadenine urinary stones)
Laboratory:
- adenine phosphoribosyltransferase in erythrocytes
General
inborn error of metabolism