Hartnup disease

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Summary of Hartnup disease

Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids, particularly tryptophan, an amino acid necessary for production of niacin and serotonin.

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Hartnup disease

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High Yield Notes

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Flashcards

Hartnup disease

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Preview

Hartnup disease is caused by a mutation in SLC6A19 on chromosome 5 which encodes for a (electrolyte) -dependent neutral amino acid transporter.

Questions

USMLE® Step 1 style questions USMLE

1 questions

USMLE® Step 2 style questions USMLE

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Preview

A 12-year-old girl comes to the emergency department because of a sudden onset rash across her body. The rash appeared after she played outside under the sun for 35 minutes. She also says she has double vision. Physical examination shows dry, scaly, well-marginated eruptions on the face, backs of the hands, and lower back. When asked to walk, her gait is wide and unsteady. Supplementation of which of the following nutrients is the most appropriate treatment?

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