Primary care
Recommendation 1
In addition to diet, may need neurological and psychiatric treatments
Hartnup Disease
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
Common symptoms
Seizurespsychosisand deliriumSkin hyperpigmentation and xerosisintellectual disability
When to suspect
Recommendation 1
Urinalysis
How to test
Recommendation 1
Urinalysis
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
High-protein diet, nicotinamide supplements for skin eruptions and neurological symptoms in patients with niacin deficiency
Further support
Recommendation 1
Neurologists, psychiatrists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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