Hartnup disease
Synonyms: Aminoaciduria, Hartnup type | Hartnup disorder
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Hartnup disease?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.