The vanishingly rare, progressive, and debilitating disease is caused by a deficiency in the enzyme alpha-mannosidase, leading to a build-up of complex sugars that damage the central nervous system and organs of the body.
Patients with alpha-mannosidosis are typically diagnosed in childhood and experience a wide range of symptoms, including infections, hearing loss and poor eyesight, muscle weakness, skeletal and joint problems, and cognitive abnormalities.
