Tag: Slc6a19

Affecting approximately 1 in 30,000 individuals, Hartnup disease is a rare genetic condition that can lead to pellagra-like symptoms. Unlike nutritional pellagra, this occurs not from a dietary lack of niacin but from an inability to properly process the amino acid tryptophan.

Hartnup disease is a rare inherited metabolic disorder, affecting an estimated 1 in 30,000 people, that primarily impacts the body's ability to absorb neutral amino acids. A crucial part of managing this condition is understanding **which amino acid is deficient in Hartnup disease**, with tryptophan being the most clinically significant due to its role in producing vital nutrients.