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Definition

An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

Acronym

APRTD

Synonyms

2,8-dihydroxyadenine urolithiasis
APRT deficiency
Nephrolithiasis DHA
Urolithiasis DHA

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.