eneseviit

Eneseviit is a rare genetic disorder characterized by the absence of the enzyme enolase, which is crucial for the breakdown of glucose. This deficiency leads to a buildup of glucose in the blood and tissues, resulting in a condition known as glycogen storage disease type V. Individuals with eneseviit typically present with symptoms such as muscle weakness, fatigue, and developmental delays. The disorder is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. Diagnosis is usually confirmed through genetic testing, which identifies mutations in the ENO1 gene. There is currently no cure for eneseviit, but management focuses on supportive care, including dietary modifications, physical therapy, and medications to manage symptoms. Research is ongoing to develop potential treatments, including enzyme replacement therapy and gene therapy.