Adenine phosphoribosyltransferase deficiency

An autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the KIDNEY, resulting in crystalluria and KIDNEY STONES. Clinical features include RENAL COLIC; HEMATURIA; URINARY TRACT INFECTION; DYSURIA, and sometimes RENAL FAILURE. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic. Caused by mutations in the APRT gene. OMIM: 614723

Also Known As:

2,8-Dihydroxyadenine Urolithiasis; 2,8-Dihydroxyadeninuria; APRT Deficiency; DHA Crystalline Nephropathy; Urolithiasis, 2,8-Dihydroxyadenine

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Glycosyltransferases: 784
      - Pentosyltransferases
        Adenine Phosphoribosyltransferase: 129
        Adenine phosphoribosyltransferase deficiency: 117
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Adenine phosphoribosyltransferase deficiency: 117
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Adenine phosphoribosyltransferase deficiency: 117
Urogenital Diseases: 126
- Urologic Diseases: 799
  - Urolithiasis: 3992
    - Adenine phosphoribosyltransferase deficiency: 117
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Urolithiasis: 3992
        Adenine phosphoribosyltransferase deficiency: 117
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Urolithiasis: 3992
      - Adenine phosphoribosyltransferase deficiency: 117

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