Hartnup Disease

Not Verified
This 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

TREATMENT

  • Recommendation 1

    High-protein diet, nicotinamide supplements for skin eruptions and neurological symptoms in patients with niacin deficiency

PRIMARY CARE

  • Recommendation 1

    In addition to diet, may need neurological and psychiatric treatments

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

  • Recommendation 1

    None is available, but can sign up to be notified when one becomes available

Sources

No data available

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