Hartnup Disease | Vibepedia
Hartnup disease is a rare autosomal recessive metabolic disorder that affects the absorption of nonpolar amino acids, particularly tryptophan, which is crucial
Overview
Hartnup disease is a rare autosomal recessive metabolic disorder that affects the absorption of nonpolar amino acids, particularly tryptophan, which is crucial for the production of serotonin, melatonin, and niacin. The disease is caused by mutations in the SLC6A19 gene and is named after the British family who first identified it. Patients with Hartnup disease often experience pellagra-like symptoms, including dermatitis, diarrhea, and neurological problems.