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Start free with EleplanXanthinuria type I
ORPHA:93601Etiological subtype
Also called XDH deficiency · XO deficiency · XOR deficiency · Xanthine dehydrogenase deficiency · Xanthine oxidase deficiency · Xanthine oxidoreductase deficiency
What it is
Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (annual incidence, Europe)Hereditary xanthinuria
- Age of onset
- All agesHereditary xanthinuria
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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