Hereditary xanthinuria

Orpha code: 3467OMIM code: 603592

Definition

A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.

Disease data
Classification

Disease

Synonyms
Classic xanthinuria
Choroba kamieni ksantynowych
Kamica ksantynowa
Ksantynuria klasyczna
Xanthic urolithiasis
Xanthine stone disease
ORPHA code
3467
OMIM code
603592
ICD10 code
E79.8
ICD11 code
5C55.00

No additional description.

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