Hartnup DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Hartnup Disease
Hartnup disorder is a genetic condition in which there is a defect in the transport of certain amino acids (such as tryptophan and histidine) by the small intestine and kidneys.
Hartnup disorder is a metabolic condition involving amino acids. It is an inherited condition. This condition occurs due to non-working copies of the SLC6A19 gene. A child must inherit a copy of the variant gene from both parents to be seriously affected.
The condition most often appears between ages 3 to 9 years.
Most people show no symptoms. If symptoms do occur, they most often appear in childhood and may include:
- Diarrhea
- Mood changes
- Nervous system (neurologic) problems, such as abnormal muscle tone and uncoordinated movements
- Red, scaly skin rash, usually when skin is exposed to sunlight
- Sensitivity to light (photosensitivity)
- Short stature
Treatments include:
- Avoiding sun exposure by wearing protective clothing and using a sunscreen with a protection factor of 15 or higher
- Eating a high-protein diet
- Taking supplements containing nicotinamide
- Undergoing mental health treatment, such as taking antidepressants or mood stabilizers, if mood swings or other mental health problems occur
Rafael Artuch-Iriberri practices practicing medicine in Barcelona, Spain. Mr. Artuch-Iriberri is rated as an Elite expert by MediFind in the treatment of Hartnup Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Hartnup Disease, PMM2-Congenital Disorder of Glycosylation, Leigh Syndrome, and Folate Deficiency.
Office
Leonard Hoenig is a primary care provider, practicing in Internal Medicine in Pembroke Pines, Florida. Dr. Hoenig is rated as an Elite provider by MediFind in the treatment of Hartnup Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Hartnup Disease, Rhinophyma, Smallpox, and Spider Angioma.
Parish Dermatology
Lawrence Parish is a Dermatologist practicing medicine in Philadelphia, Pennsylvania. Dr. Parish is rated as a Distinguished provider by MediFind in the treatment of Hartnup Disease. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Hartnup Disease, Athlete's Foot, Contact Dermatitis, and Pellagra. Dr. Parish is board certified in American Board Of Dermatology.
Most people with this disorder can expect to live a normal life with no disability. Rarely, there have been reports of severe nervous system disease and even deaths in families with this disorder.
In most cases, there are no complications. Complications when they occur may include:
- Changes in skin color that are permanent
- Mental health problems
- Rash
- Uncoordinated movements
Nervous system symptoms can most often be reversed. However, in rare cases they can be severe or life threatening.
Contact your provider if you have symptoms of this condition, especially if you have a family history of Hartnup disorder. Genetic counseling is recommended if you have a personal or family history of this condition and are planning a pregnancy.
Genetic counseling prior to marriage and conception may help prevent some cases. Eating a high-protein diet may prevent amino acid deficiencies that cause symptoms.
Published Date: August 18, 2024
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Kliegman RM, St. Geme JW, Blum NJ, et al. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2020:chap 105.
Pearl PL, DiBacco ML, Gibson KM. Inborn errors of metabolism and the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 91.