Xanthinuria (Q40107): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1565213608
@@ Property / Canonical URI: https://id.who.int/icd/entity/1565213608 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:5C55.00
@@ Property / CURIE: CID11:5C55.00 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-5C55.00
@@ Property / Canary Token: dki-india-5C55.00 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+E79.8
@@ Property / Linked ICD 10: E79.8 / rank @@
+Normal rank

Latest 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
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.