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Summary
ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT)
ADENINE PHOSPHORIBOSYLTRANSFERASE ADENINE PHOSPHO-RIBOSYL-TRANSFERASE (APRT) DEFICIENCY
614723
OMIM = Online Medalian Inheritance of Men
976
16q24.3
  • allopurinol
  • high fluid intake
  • low-purine diet
rare
autosomal recessive
symptoms
hematuria
infections (urinary tract)
no clinical signs or symptoms
onset, childhood
onset, neonatal
pain, abdominal
renal failure, acute/chronic
urolithiasis, kidney stones
yellow-brown urine crystals
laboratory finding
2,8-Dihydroxyadenine0.000.00 increasedurineno data
Literature
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