Hartnup Disease
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Hartnup Disease

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Hartnup Disease is an autosomal recessive metabolic disorder characterized by dysfunction in the neutral amino acid transporter.

This defect causes decreased absorption of nonpolar amino acids, specifically tryptophan. Since tryptophan is important for the synthesis of Vitamin B3 (Niacin), patients with Hartnup disease will also present with signs and symptoms consistent with Niacin Deficiency), with pellagra-like symptoms.

Since clinical findings are primarily due to niacin/tryptophan deficiency, niacin supplementation and/or a high-protein diet can be used to treat the disease.

Find Hartnup Disease and other Vitamins among Pixorize's visual mnemonics for the USMLE Step 1 and NBME shelf exams.