Een zeldzame oorzaak van pellagra

Hartnup disease is caused by mutations in the SLC6A19 gene. It results in a deficiency of tryptophan in particular due to increased secretion of neutral amino acids. This causes a vitamin B3 deficiency. The condition is diagnosed by measuring neutral amino acids in the urine and DNA diagnostics. The disease presents with skin abnormalities and neurological symptoms as seen in pellagra. Timely recognition is essential to prevent severe clinical symptoms.