Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) is a disorder where the body faces muscle weakness, trouble with exercise, too much lactic acid buildup, and a kind of anemia where the bone marrow can’t make healthy red blood cells.
When lactic acid builds up, it can cause fast and deep breathing, throwing up, and belly pain. People with MLASA1 might also have problems with learning and moving, heart muscle issues, difficulty swallowing, and issues with teeth and bones. MLASA1 can lead to breathing problems that may get worse and even lead to death. These signs often show up in childhood, but the age they start and how fast they get worse can be different for each person. Right now, there isn’t a cure for MLASA1, but treatments like blood transfusions and steroids can help manage some of the problems, especially the anemia.
MLASA1 is caused by pathogenic (disease-causing) variants in the PUS1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
MalaCards Human Disease Database
Revised November 2023
