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Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
Features include always present findings: Delayed speech and language development, Cutaneous photosensitivity, Generalized tonic seizure, and Elevated urinary indoleacetic acid level and others; and sometimes findings: Short stature and Glossitis. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Delayed speech and language development, Seizure, Episodic ataxia |
SLC6A19 function has not been fully characterized.
Hartnup disease is caused by mutations in the SLC6A19 gene on chromosome 5.
Genetic testing for SLC6A19 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 8 always present features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for Hartnup disease.
16 publications have been identified in PubMed for Hartnup disease. Research spans Basic Science / Preclinical (71%), Other (7%), and Case Report / Case Series (7%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 10 | 71% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Hartnup disease
Skin |
1 |
Cutaneous photosensitivity |
Growth and development | 1 | Short stature |
Kidneys and urinary system | 1 | Elevated urinary indoleacetic acid level |
1 |
7% |
Patient case studies | 1 | 7% |
Disease patterns and progression | 1 | 7% |
New treatment approaches | 1 | 7% |
Yang W (2026). [PMID: 41799509](https://pubmed.ncbi.nlm.nih.gov/41799509/). *Oncology research*. [Basic Science / Preclinical]
Johnson RL (2026). [PMID: 41308228](https://pubmed.ncbi.nlm.nih.gov/41308228/). *Gynecologic oncology*. [Basic Science / Preclinical]
Hoenig LJ (2026). [PMID: 41138957](https://pubmed.ncbi.nlm.nih.gov/41138957/). *Clinics in dermatology*. [Epidemiology / Natural History]
Foscolos AS (2026). [PMID: 41945792](https://pubmed.ncbi.nlm.nih.gov/41945792/). *ChemMedChem*. [Basic Science / Preclinical]
Li S (2025). [PMID: 40164990](https://pubmed.ncbi.nlm.nih.gov/40164990/). *Transplantation*. [Basic Science / Preclinical]
Ajayi JA (2025). [PMID: 41142409](https://pubmed.ncbi.nlm.nih.gov/41142409/). *Current research in physiology*. [Basic Science / Preclinical]
Alkhofash NF (2025). [PMID: 40852587](https://pubmed.ncbi.nlm.nih.gov/40852587/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Colijn MA (2025). [PMID: 39892832](https://pubmed.ncbi.nlm.nih.gov/39892832/). *J Acad Consult Liaison Psychiatry*. [Other]
Dehury B (2025). [PMID: 39749651](https://pubmed.ncbi.nlm.nih.gov/39749651/). *Journal of cellular biochemistry*. [Basic Science / Preclinical]
Li S (2025). [PMID: 40297140](https://pubmed.ncbi.nlm.nih.gov/40297140/). *Frontiers in pharmacology*. [Basic Science / Preclinical]