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Abstract |
Fortuitous Discovery of Hereditary Xanthinuria |
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Hereditary xanthinuria was the first inherited purine metabolism disorder described. It is a rare pathology, which is most often asymptomatic and whose incidence is therefore underestimated. We report the case of a patient with an undetectable level of uric acid in the blood, discovered during a systematic biological assessment. This case report recalls the existence of this rare metabolic disorder, which is usually benign, but can lead to complications, and the importance of considering an abnormality of the purine cycle when discovering a hypo-uricemia. |
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