Inherited disorders of purine metabolism |
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Genetic defects in the molybdoflavoprotein enzymes: |
Xanthinuria type I (xanthine oxidoreductase deficiency) |
Xanthinuria type II (molybdenum cofactor sulfurase deficiency: combined xanthine oxidoreductase and aldehyde oxidase deficiencies) |
Molybdenum cofactor deficiency |
Purine nucleoside phosphorylase deficiency |
Phosphoribosylpyrophosphate synthetase deficiency |
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Secondary reduction in uric acid biosynthesis |
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Hepatic failure |
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Inherited renal hypouricemia (isolated renal tubule reabsorption defect) |
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Renal hypouricemia-1 [URAT1 (SLC22A12) deficiency] |
Renal hypouricemia-2 [URAT9 (SLC22A9) deficiency] |
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Inherited causes of the Fanconi renotubular syndrome and its variants (the syndrome of multiple renal tubule reabsorption defects) |
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Fanconi renotubular syndrome 1 |
Cystinosis (accumulation of intralysosomal cystine) |
Galactosemia (galactose-1-phosphate uridylyltransferase deficiency) |
Hereditary fructose intolerance (fructose 1-phosphate aldolase B deficiency) |
Glycogen storage disease type 1 (glucose-6-phosphate deficiency) |
Wilson’s disease [ATPase, Cu2+ transporting, beta polypeptide (ATP7B) deficiency] |
Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency) |
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Acquired causes of the Fanconi renotubular syndrome and its variants |
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Metal poisoning (e.g., Cd, Zn, Cu, Pb, Hg) |
Multiple myeloma |
Nephrotic syndrome |
Malignant disease |
Autoimmune disease (e.g., Sjogren’s syndrome) |
Thermal burns |
Primary hyperparathyroidism |
Acute renal tubular necrosis |
Renal transplant rejection |
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Drugs |
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Xanthine oxidoreductase inhibitor (e.g., allopurinol, febuxostat) |
Drugs used either as uricosuric agents or to block other aspects of renal tubule excretion (e.g., sulfinpyrazone, probenecid, benzbromarone) |
Non-steroidal anti-inflammatory drugs with uricosuric properties (e.g., phenylbutazone, azapropazone, high dose of aspirin) |
Coumarin anticoagulants (e.g., warfarin) |
Outdated tetracycline (5 alpha-6-anhydro-4-epitetracycline) |
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Nutritional deficiencies |
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Vitamines B12, C, D |
Kwashiorkor |