Errors of Inborn Metabolism (Heartnup Disease) Flashcards Preview

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Flashcards in Errors of Inborn Metabolism (Heartnup Disease) Deck (3)
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1

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.

2

What is the main complication of Heartnup disease?

It will lead to pellagra, which is caused by decreased intake of tryptophan or niacin (B3).

3

What does Heartnup disease cause physiologically?

Causes excretion of tryptophan in the urine (due to defective transporters of neutral amino acids) and decreases its absoorption from the gut.