Skip navigation
MedlinePlus Trusted Health Information for You U.S. National Library of MedicineNational Institutes of Health
Contact Us FAQs Site Map About MedlinePlus
español Home Health Topics Drug Information Medical Encyclopedia Dictionary News Directories Other Resources

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Hartnup disorder

Printer-friendly versionEmail this page to a friend
Contents of this page:

Definition   

Hartnup disorder is an inherited metabolic disorder involving the transport of certain amino acids (for example, tryptophan and histidine) in the small intestine and kidneys.

Causes, incidence, and risk factors   

Hartnup disorder is possibly the most common metabolic condition involving amino acids. It is a genetic disorder inherited in an autosomal recessive manner, which means that the child must inherit the defective gene from both parents in order to be seriously affected.

Although most people show no symptoms, photosensitivity is the major symptom, and uncoordinated movements and mood changes often appear together in some cases. The condition usually begins in childhood.

Symptoms   

Signs and tests   

A urinalysis that checks for elevated levels of "neutral" amino acids and normal levels of other amino acids may be done for this disorder. A genetic test may become available soon.

Treatment   

Expectations (prognosis)   

Most people with this disorder can expect a normal lifespan with no disability. Rarely, there have been reports of severe bouts of neurologic disease and even deaths in families with this disorder.

Complications   

There are usually no complications. The minority of people who develop symptoms can experience rash, uncoordinated movements, and less frequently psychiatric symptoms.

Calling your health care provider   

Call for an appointment with your health care provider if you have symptoms suggestive of this condition, particularly if you have a family history of Hartnup disorder. Genetic counseling is recommended if you have a family history of this condition and are planning a pregnancy.

Prevention   

Genetic counseling may help prevent some cases. A high protein diet may prevent amino acid deficiencies that cause symptoms.

Update Date: 7/26/2004

Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

adam.com logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.