alpha-mannosidosis
Alpha-mannosidosis is a rare genetic disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is essential for breaking down certain complex sugars in the body. When it is lacking, these sugars accumulate, leading to various health issues, including developmental delays, immune system problems, and skeletal abnormalities.
Symptoms of alpha-mannosidosis can vary widely among individuals and may include hearing loss, facial changes, and cognitive impairment. Diagnosis typically involves genetic testing and enzyme activity assays. While there is no cure, treatment options focus on managing symptoms and improving quality of life for affected individuals.