Hartnup disease

Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as ...1

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Symptoms of Hartnup disease

Symptoms: The signs and symptoms of Hartnup disease may vary and include the following:

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Genetics of Hartnup disease

Genetic Changes: Hartnup disease is caused by mutations in the SLC6A19 gene. This gene provides instructions for making a protein called B0AT1, which is primarily found embedded in the membrane of intestine and kidney cells. The function of this protein ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ hartnup-disease
  2. ibid.
  3. ibid.

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