Hartnup Disease Treatment & Management

Updated: Feb 06, 2017
  • Author: Lidija Kandolf Sekulovic, MD, PhD; Chief Editor: William D James, MD  more...
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Treatment

Medical Care

Medical care is discussed as follows [3, 22, 25, 26, 33] :

  • A high-protein diet can overcome the deficient transport of neutral amino acids in most patients. Poor nutrition leads to more frequent and more severe attacks of the disease, which is otherwise asymptomatic.

  • Advise all patients who are symptomatic to use physical and chemical protection from sunlight. Avoiding excessive exposure to sunlight, wearing protective clothing, and using physical and chemical sunscreens are mandatory. Recommend sunscreens with a skin protection factor of 15 or greater.

  • Advise patients to avoid other aggravating factors, such as photosensitizing drugs, as much as possible.

  • In patients with niacin deficiency and symptomatic disease, daily supplementation with nicotinic acid or nicotinamide reduces the number and the severity of attacks.

  • Neurologic and psychiatric treatment is needed in patients with severe CNS involvement.

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Consultations

Helpful consultations are as follows [3, 26, 33, 35] :

  • Consult a dermatologist for diagnosis and treatment of photosensitivity and pellagralike rash.

  • Consult an experienced neurologist for thorough follow-up monitoring and treatment of CNS involvement.

  • Consult a psychiatrist to diagnose and treat psychiatric symptoms, which may vary considerably.

  • Consult an ophthalmologist if ocular manifestations, which are rare, occur.

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Diet

Advise patients who are symptomatic to consume a high-protein diet because it decreases the number of attacks. [3, 25, 36]

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Activity

Advise patients to protect themselves from sunlight. Protective clothing, hats and eyewear, and physical and chemical sunscreens provide photoprotection. [26]

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Prevention

Deterrence and prevention are as follows [24, 25] :

  • Because sun exposure can exacerbate Hartnup disease, advise patients to protect themselves from sunlight.

  • Because aggravating factors, such as sulfonamides and possibly emotional stress, can exacerbate Hartnup disease, advise patients to avoid these factors.

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Long-Term Monitoring

Advise patients to use protection from sunlight, to avoid other aggravating factors, to consume a high-protein diet, and to take daily supplements of nicotinic acid. In patients who are symptomatic, recommend regular follow-up examinations, depending on the severity of symptoms and the organ systems involved.

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