adenine phosphoribosyltransferase deficiency (Q4682223)
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An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.
- 2,8-dihydroxyadeninuria disease
- Urolithiasis, 2,8-Dihydroxyadenine
- APRTD
- 2,8-dihydroxyadenine urolithiasis
- Dihydroxyadeninuria
- Nephrolithiasis, Dha
- APRT deficiency
- Urolithiasis, Dha
- ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
Language | Label | Description | Also known as |
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English | adenine phosphoribosyltransferase deficiency |
An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. |
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C121564
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