HARTNUP DISEASE Meaning and
Definition
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Hartnup disease is a rare metabolic disorder that affects the absorption and transportation of certain amino acids, particularly tryptophan, in the body. The condition is inherited and is caused by a mutation in the SLC6A19 gene, which is responsible for the production of a protein called the neutral amino acid transporter (B(0)AT1). This protein is primarily found in the kidneys and intestines and plays a crucial role in the reabsorption of amino acids from the urine and the absorption of amino acids from the diet into the bloodstream.
Individuals with Hartnup disease have a defect in the B(0)AT1 protein, leading to impaired absorption of tryptophan and other neutral amino acids. This can result in various symptoms, including skin rashes, photosensitivity, digestive problems, neurological symptoms (such as ataxia and tremors), and cognitive impairment. The severity and presentation of symptoms can vary widely among affected individuals.
Diagnosis of Hartnup disease is typically confirmed through urine tests that show increased excretion of neutral amino acids. Genetic testing can also be performed to detect mutations in the SLC6A19 gene. Treatment of the condition generally involves dietary modifications aimed at increasing the intake of tryptophan and other neutral amino acids. This may include consuming protein-rich foods or taking supplements. Additionally, some symptoms, such as skin rashes, can be managed through protective measures like avoiding sunlight and using sunscreen.
In summary, Hartnup disease is a genetic disorder that disrupts the absorption and transportation of certain amino acids, leading to various symptoms.
Common Misspellings for HARTNUP DISEASE
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Etymology of HARTNUP DISEASE
The word "Hartnup Disease" is named after the physician who first described it, Dr. Cecil J. Hartnup. He was an Australian pediatrician who identified the disorder in an indigenous Australian family in 1956. The name "Hartnup" thus pays tribute to the doctor who made significant contributions to the understanding of the condition.
