Hartnup Syndrome is a rare autosomal recessive metabolic disorder affecting the absorption of neutral amino acids.
4.0 ( Per 100,000 Population ) [Source]
Hartnup Syndrome is caused by the defective transport of amino acids in the small intestine and kidneys. The onset is typically between age three and nine but may be present shortly after birth.
No symptom information has been added yet.
| Name | Description |
|---|---|
| Photosensitivity | Redness or rashes after exposure to sunlight |
| Mental retardation | Mental retardation |
| Diarrhea | Diarrhea |
| Short stature | Short stature |
Tests that indicate abnormal levels of amino acids may be used for diagnosis.
No diagnostic test information has been added yet.
We don't have any tests yet.
Treatments typically involve supplements containing nicotinamide.
We don't have any treatments yet.
Typically people with Hartnup Syndrome live a normal lifespan with no disability.
We don't have any tips yet.
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