Hartnup Disease is a rare genetic disorder that affects the absorption of certain amino acids in the body. It is estimated to have a prevalence of approximately 1 in 30,000 to 40,000 individuals worldwide. This condition is inherited in an autosomal recessive manner, meaning both parents must carry the gene mutation for a child to be affected. Although considered rare, it is important to raise awareness about Hartnup Disease to ensure early diagnosis and appropriate management for those affected.
Hartnup Disease is a rare genetic disorder that affects the absorption of certain amino acids in the body. It is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for their child to be affected.
The prevalence of Hartnup Disease is estimated to be around 1 in 30,000 to 1 in 100,000 individuals worldwide. Although it is considered a rare condition, the exact prevalence may vary among different populations and regions.
While the disease can occur in people of any ethnic background, it has been reported more frequently in certain populations, such as the Māori people of New Zealand. The symptoms of Hartnup Disease can vary widely, ranging from mild to severe, and may include skin rashes, neurological issues, and psychiatric symptoms.
Early diagnosis and appropriate management are crucial in minimizing the impact of the disease on an individual's health. Treatment typically involves dietary modifications and supplementation with certain amino acids to ensure proper nutrition.