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Hartnup disease

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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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

Assessments
Hartnup disease

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High Yield Notes
7 pages
Flashcards

Hartnup disease

10 flashcards
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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

1 questions
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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