What is the prevalence of Hurler Syndrome MPS1H?
How many people does Hurler Syndrome MPS1H affect? Does it have the same prevalence in men and women? And in the different countries?
Hurler Syndrome (MPS1H) is a rare genetic disorder characterized by the deficiency of an enzyme called alpha-L-iduronidase. This leads to the accumulation of certain substances in the body, causing progressive damage to various organs and tissues. The prevalence of Hurler Syndrome is estimated to be around 1 in 100,000 to 1 in 200,000 live births. It is considered a very rare condition, affecting a small number of individuals worldwide. Early diagnosis and appropriate management are crucial for improving the prognosis and quality of life for individuals with Hurler Syndrome.
Hurler Syndrome, also known as MPS1H (Mucopolysaccharidosis Type 1H), is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is inherited in an autosomal recessive manner, meaning both parents must carry the defective gene for a child to be affected.
The prevalence of Hurler Syndrome is estimated to be around 1 in 100,000 to 1 in 200,000 live births worldwide. Although it is considered a rare condition, the exact prevalence may vary among different populations and regions.
Hurler Syndrome is caused by a deficiency of the enzyme alpha-L-iduronidase, which leads to the accumulation of complex sugar molecules called glycosaminoglycans in various tissues and organs of the body. This buildup affects multiple systems, including the skeletal, cardiovascular, respiratory, and central nervous systems.
Early diagnosis and intervention are crucial for managing Hurler Syndrome. Without treatment, affected individuals typically experience progressive organ damage and a shortened lifespan. However, with advancements in medical care, including enzyme replacement therapy and hematopoietic stem cell transplantation, the prognosis has improved significantly.
It is important for individuals with a family history of Hurler Syndrome or those displaying symptoms to consult with healthcare professionals for proper diagnosis and guidance.
