Hartnup syndrome (Q53436): Difference between revisions
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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. | |||
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 |
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| 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. |
