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| Disease found: | Hartnup Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | An autosomal recessive nutritional disorder causing decreased absorption of neutral amino acids from the gut and kidney due to a mutation in the SLC6A19 gene [more info] |
| Signs and Symptoms: | Seizures, psychosis, and delirium; Skin hyperpigmentation and xerosis; intellectual disability [more info] |
| Diagnosis: | Urinalysis [more info] |
| Treatment: | High-protein diet, nicotinamide supplements for skin eruptions and neurological symptoms in patients with niacin deficiency [more info] |
| Clinical Management: | In addition to diet, may need neurological and psychiatric treatments [more info] |
| Referral: | Neurologists, psychiatrists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |