Xanthinuria (Q40107): Difference between revisions
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Xantinúria é uma doença autossômica recessiva rara associada a uma deficiência na xantina desidrogenase (XDH - também conhecida como xantina oxidorredutase, XOR), que normalmente catalisa a conversão de hipoxantina e xantina em ácido úrico. Em humanos, o NAD+ é o receptor de elétrons e a atividade significativa está restrita a fígado e mucosa intestinal. A conversão irreversível em oxidase ocorre durante isquemia. O acúmulo/excreção preferencial de xantina em plasma e urina resulta da extensa reciclagem de hipoxantina pela via de salvamento para a qual a xantina não é um substrato em humanos: excesso de xantina derivado da guanina via guanina desaminase. | |||
| description / en | description / en | ||
Xanthinuria is a rare autosomal recessive disorder associated with a deficiency in xanthine dehydrogenase (XDH - also referred to as xanthine oxidoreductase, XOR), which normally catalyses the conversion of hypoxanthine and xanthine to uric acid. In humans NAD+ is the electron acceptor and significant activity is confined to liver and intestinal mucosa. Irreversible conversion to oxidase occurs during ischaemia. The preferential accumulation/excretion of xanthine in plasma and urine results from extensive hypoxanthine recycling by the salvage pathway for which xanthine is not a substrate in humans: excess xanthine deriving from guanine via guanine deaminase. | |||
Revision as of 05:47, 13 August 2026
Xanthinuria is a rare autosomal recessive disorder associated with a deficiency in xanthine dehydrogenase (XDH - also referred to as xanthine oxidoreductase, XOR), which normally catalyses the conversion of hypoxanthine and xanthine to uric acid. In humans NAD+ is the electron acceptor and significant activity is confined to liver and intestinal mucosa. Irreversible conversion to oxidase occurs during ischaemia. The preferential accumulation/excretion of xanthine in plasma and urine results from extensive hypoxanthine recycling by the salvage pathway for which xanthine is not a substrate in humans: excess xanthine deriving from guanine via guanine deaminase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C55.00 |
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| English | Xanthinuria |
Xanthinuria is a rare autosomal recessive disorder associated with a deficiency in xanthine dehydrogenase (XDH - also referred to as xanthine oxidoreductase, XOR), which normally catalyses the conversion of hypoxanthine and xanthine to uric acid. In humans NAD+ is the electron acceptor and significant activity is confined to liver and intestinal mucosa. Irreversible conversion to oxidase occurs during ischaemia. The preferential accumulation/excretion of xanthine in plasma and urine results from extensive hypoxanthine recycling by the salvage pathway for which xanthine is not a substrate in humans: excess xanthine deriving from guanine via guanine deaminase. |
