Here's what you need to know about Hartnup disease, a rare genetic disorder that affects the absorption of certain amino acids in the intestines and kidneys.
Causes
It is caused by mutations in the SLC6A19 gene, which encodes a protein involved in absorbing amino acids from diet, especially tryptophan. Tryptophan and other neutral amino acids are impaired by these mutations in the intestines and kidneys.
Symptoms
Individuals affected by Hartnup disease may experience a variety of symptoms, including:
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An area exposed to sunlight may develop a skin rash resembling sunburn.
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Skin rash can be exacerbated by increased sensitivity to sunlight.
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There are some individuals who may experience neurological symptoms such as headaches, dizziness, and ataxia (lack of coordination).
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Symptoms of gastrointestinal distress include vomiting, diarrhea, and abdominal pain.
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It is possible to experience developmental delays or intellectual disabilities in severe cases.
Diagnosis
Hartnup disease is typically diagnosed by:
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The healthcare provider will assess the patient's symptoms and medical history, including family history.
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The levels of tryptophan and other neutral amino acids can be measured by blood and urine tests.
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A genetic test can be conducted to confirm the presence of mutations in the SLC6A19 gene.
Treatment
In order to manage Hartnup disease symptoms and prevent complications, the following treatments may be used:
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You can compensate for impaired tryptophan absorption by increasing your intake of tryptophan-rich foods, such as milk, eggs, poultry, and fish.
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Niacin (vitamin B3) and tryptophan supplements may be necessary in some cases to maintain adequate levels.
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Medications may be prescribed to treat symptoms such as skin rashes, photosensitivity, and neurological problems.
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To assess treatment effectiveness and prevent complications, amino acid levels and overall nutritional status must be monitored regularly.
Prevention
As Hartnup disease is a genetic disorder, it cannot be prevented. However, genetic counseling may be beneficial for individuals who have a family history of the disease.
Conclusion
There is no cure for Hartnup disease, but treatment focuses on managing symptoms, supplementation, and symptomatic treatment for it. Hartnup disease is a rare genetic disorder characterized by impaired absorption of certain amino acids, primarily tryptophan. It is possible to improve outcomes and quality of life for individuals with Hartnup disease by timely diagnosis and appropriate management.
