Hartnup disease

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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 September 2023.

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Hartnup disease?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.