What is Hartnup Disease

Hartnup Disease is a rare genetic disorder that affects the body's ability to absorb certain amino acids, which are the building blocks of proteins. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition.

The main feature of Hartnup Disease is impaired absorption of the amino acid tryptophan, which is essential for normal growth and development. This can lead to a range of symptoms, including skin rashes, photosensitivity (increased sensitivity to sunlight), neurological problems, and psychiatric symptoms.

Diagnosis of Hartnup Disease is typically made through clinical evaluation, genetic testing, and specialized laboratory tests to measure amino acid levels in the blood and urine.

Treatment for Hartnup Disease involves managing symptoms and ensuring adequate intake of tryptophan and other essential nutrients. This may include dietary modifications, such as increasing protein intake and taking supplements.

While Hartnup Disease can cause significant challenges, with proper management and support, individuals with this condition can lead relatively normal lives.