Hypertryptophanemia

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Disease Overview

Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body’s ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior).[10406][10407][10408] The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner.[10407] Treatment is based on the signs and symptoms present in each person.



For more information, visit GARD.

National Organization for Rare Disorders