Sphingomyelinase deficiency is a rare genetic disease that affects the ability of the body to digest fats inside cells. These cells begin to malfunction and eventually perish. Sphingomyelinase deficiency may damage the brain, nerves, spleen, bone marrow, liver and, in severe instances, the lungs.
People with this disorder have symptoms due to the progressive loss of nerve, brain, as well as other organ functions. People who are missing the sphingomyelinase enzyme have a condition that affects everyone; however, it is more prevalent in youngsters. The condition has no permanent treatment and can be lethal in some cases. The objective of therapy is to help people cope.
