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

More general terms

• inborn error of metabolism