Hartnup disease

Hartnup disease is a rare metabolic disorder that affects how the body processes certain neutral amino acids. In this condition, the kidneys and gastrointestinal tract do not absorb or transport these amino acids normally, which can lead to an abnormal loss of these important building blocks. The disorder involves amino acids such as tryptophan, alanine, asparagine, and others. It is linked to changes in the gene SLC6A19, which plays a key role in moving these amino acids in the body. Although the exact pattern of symptoms may vary, the disorder falls under a group of conditions known as neutral aminoacidurias.

Information about symptoms is currently limited for this condition.

Hartnup disease is caused by changes in the body’s ability to transport neutral amino acids. Variants in the SLC6A19 gene are responsible for this altered function in the kidneys and gastrointestinal tract. This genetic change impairs the absorption and reabsorption of several important amino acids.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.