Hartnup syndrome (Q53436): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A síndrome de Hartnup é uma doença metabólica rara pertencente às aminoacidúrias neutras e caracterizada pelo transporte renal e gastrointestinal anormal de aminoácidos neutros (triptofano, alanina, asparagina, glutamina, histidina, isoleucina, leucina, fenilalanina, serina, treonina, tirosina e valina). Pode ser assintomática ou apresentar fotossensibilidade cutânea, sintomas neurológicos ou psiquiátricos.
@@ description / en / description / en @@
+Hartnup syndrome is a rare metabolic disorder belonging to the neutral aminoacidurias and characterised by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). It can be asymptomatic or present with skin photosensitivity, neurological or psychiatric symptoms.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/871897464
@@ Property / Canonical URI: https://id.who.int/icd/entity/871897464 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_871897464
@@ Property / CURIE: CID11:ID_871897464 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_871897464
@@ Property / Canary Token: dki-india-ID_871897464 / 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

Latest revision as of 00:55, 14 August 2026

Hartnup syndrome is a rare metabolic disorder belonging to the neutral aminoacidurias and characterised by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). It can be asymptomatic or present with skin photosensitivity, neurological or psychiatric symptoms.

Language	Label	Description	Also known as
default for all languages	ID_871897464
English	Hartnup syndrome	Hartnup syndrome is a rare metabolic disorder belonging to the neutral aminoacidurias and characterised by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). It can be asymptomatic or present with skin photosensitivity, neurological or psychiatric symptoms.