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Xanthinuria, also
known as
xanthine oxidase deficiency, is a rare
genetic disorder causing the ac****ulation of xanthine. It is
caused by a deficiency...
- intake. Type I
xanthinuria has been
traced directly to
mutations of the XDH gene
which mediates xanthine oxidase activity. Type II
xanthinuria may result...
- site
folic acid type
Xanthic urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis,
hereditary Xeroderma Xeroderma...
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receptor subtypes.
People with rare
genetic disorders,
specifically xanthinuria and Lesch–Nyhan syndrome, lack
sufficient xanthine oxidase and cannot...
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human molybdenum cofactor sulfurase gene is
responsible for
classical xanthinuria type II".
Biochemical and
Biophysical Research Communications. 282 (5):...
-
number of
purine disorders, in
particular xanthinuria.
Despite having complete absence of
blood uric acid,
xanthinuria patients do not have any neuropathology...
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urine alkalinization and
dietary protein restriction.
People affected by
xanthinuria often produce stones composed of xanthine.
People affected by adenine...
-
kidney stone analysis.
Differential diagnosis Uric acid nephrolithiasis,
Xanthinuria, and
Primary hyperoxaluria.
Medication Allopurinol.
Frequency 0.4% to...
- and
xanthine oxidoreductase.
Defects in
xanthine dehydrogenase cause xanthinuria, may
contribute to
adult respiratory stress syndrome, and may potentiate...
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metabolism Lesch–Nyhan
syndrome Purine nucleoside phosphorylase deficiency Xanthinuria 277.3
Amyloidosis Familial Mediterranean fever 277.4 Hyperbilirubinemia...
