Belgian Genetic Tests database
Hartnup disease
| Name: |
Hartnup disease
|
| Description: |
A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
|
| ORPHAcode: |
2116
|
| Synonyms: |
Aminoaciduria, Hartnup type
Hartnup disorder
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|