Alpha Mannosidosis (A-Mann) is a very rare condition of metabolism affecting 1 in 500,000 to 1 in a million people. It belongs to a group of diseases called Lysosomal Storage diseases. These diseases occur when the individual affected is lacking a particular Lysosomal enzyme, of which there are approximately 40, the lack of each causing a different disease. The enzyme works within the waste unit of each cell in the body to break down sugars. When an individual lacks a particular enzyme there is a build up of certain wastes and this in turn causes various symptoms in the individual affected.
The condition is autosomal recessive. This means that for an individual to be affected, both their parents must be carriers for the disease. When two carriers have children, each child has a 25% chance of being affected, 50% chance of being a non-affected carrier and a 25% chance of being a non-carrier and non-affected. While I knew what Lysosomes and recessive genetic conditions were from textbooks; I didn’t know in reality.