What is the prevalence of Histidinemia?
How many people does Histidinemia affect? Does it have the same prevalence in men and women? And in the different countries?
Histidinemia is a rare metabolic disorder characterized by the inability to properly break down the amino acid histidine. It is estimated to affect approximately 1 in every 100,000 to 600,000 individuals worldwide. Although the prevalence may vary among different populations, it is generally considered to be a very rare condition. Histidinemia is typically detected through newborn screening programs, allowing for early intervention and management. While the disorder itself is not usually associated with significant health problems, individuals with histidinemia may require dietary restrictions or supplementation to maintain optimal health.
Histidinemia is a rare metabolic disorder characterized by the inability to properly break down the amino acid histidine. This condition is caused by a deficiency of the enzyme histidase, which is responsible for the conversion of histidine into another amino acid called urocanic acid.
The prevalence of histidinemia is estimated to be around 1 in 50,000 to 1 in 100,000 individuals worldwide. It is more commonly found in certain populations, such as the indigenous people of Alaska and Native Americans, where the prevalence can be as high as 1 in 1,800 individuals.
Although histidinemia is considered a rare disorder, it is important to note that not all individuals with histidinemia will experience symptoms or require treatment. Many individuals with histidinemia are asymptomatic and lead normal lives without any health complications.
Diagnosis of histidinemia is typically made through newborn screening programs, where elevated levels of histidine are detected in blood samples. Treatment for histidinemia usually involves dietary management, where individuals are advised to follow a low-histidine diet to prevent the accumulation of histidine and its byproducts.
