Short answer · Medically reviewed summary · Last updated: 2023-07-13
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.
What is the prevalence of Histidinemia?
Prevalence of Histidinemia: how many people are affected worldwide, differences by sex and region, with sources.
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.
