Flashcards in Errors of Inborn Metabolism (Heartnup Disease) Deck (3)
What is the inheritance pattern of this disease and describe this disease?
AR inheritance, there is defective neutral amino acid transporters in the renal and intestinal epithelial cells.
What is the main complication of Heartnup disease?
It will lead to pellagra, which is caused by decreased intake of tryptophan or niacin (B3).