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 in Barcelona, Spain. Mr. Artuch-Iriberri is rated as an Elite expert by MediFind in the treatment of Hartnup Disease. His top areas of expertise are Hartnup Disease, PMM2-Congenital Disorder of Glycosylation, Leigh Syndrome, and Folate Deficiency.
GMA/Heyl Family Practice
Dr. Matthew Macken is a board-certified Family Medicine doctor at Heyl Family Practice in North Hills of Pittsburgh. Dr. Macken sees patients at both the West View and McCandless offices, as well as Passavant Hospital - McCandless. As a primary care provider for a wide range of patients, Dr. Macken has interests in Sports Medicine, Geriatrics and Adult Internal Medicine.When asked what he likes most about what he does as a physician, he stated, “The opportunity to learn more about my patients and their families’ lives. The unique thing about primary care is the ability to treat patients and build relationships that can last a lifetime.” It’s clearly more about providing a high-quality experience for the patient and truly getting to know their needs as they evolve.When asked what his top goal is for his role as a primary care doctor, he indicated it is, “To maintain the best quality of life for each of my patients and their unique medical needs. In reading various reviews of Dr. Macken’s care of patients at the practice, this review described him perfectly."“Dr. Macken listens very carefully with genuine concern and takes his time explaining his treatment plan, as well as answering any questions you may have. He is a top-notch doctor, along with a kind, caring and courteous staff! I highly recommend Dr. Macken, as well as the PAs in his office." -Martha S.Dr. Matthew Macken and Heyl Family Practice providers are currently accepting new patients. Dr. Macken is rated as an Advanced provider by MediFind in the treatment of Hartnup Disease. His top areas of expertise are Seasonal Affective Disorder (SAD), Obesity, Gastroesophageal Reflux Disease (GERD), and Sinusitis.
GMA/Heyl Family Practice
Dr. Scott Heyl is a board-certified Family Medicine doctor at Heyl Family Practice in North Hills of Pittsburgh. Dr. Heyl sees patients at both the West View and McCandless offices, as well as Passavant Hospital - McCandless. As a primary care provider for a wide range of patients, Dr. Heyl thoroughly enjoys helping patients, especially those who are struggling with their mental health.Dr. Heyl holds a few different roles alongside his primary responsibility as a doctor at the practice. He is the E-Record Medical Director at Passavant, Board of Bridges Accountable Care Organization (ACO), and the Secretary of the Genesis Medical Associates Board of Directors.His favorite thing about family medicine is the ability to establish close relationships with his patients and their families. Dr. Scott Heyl believes you should be empathetic and treat your patients like they truly are your family.Dr. Scott Heyl enjoys spending time with his family and being on the golf course when he’s not in the clinic.If you ask him why Heyl Family Practice is different than other primary care providers, he will tell you, “We’re unique because we’ve been around a long time... over 75 years. We still see patients that started with us in their youth even though they’ve moved to hospital or personal care. We truly care for patients at every level of their health... young and old.”Dr. Scott Heyl and Heyl Family Practice providers are currently accepting new patients. Dr. Heyl is rated as an Advanced provider by MediFind in the treatment of Hartnup Disease. His top areas of expertise are Seasonal Affective Disorder (SAD), Purpura, Gardner-Diamond Syndrome, and Autoerythrocyte Sensitivity.
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.