Families

SLC31A1is a gene that codes for copper transport protein called CTR1. CTR1 is found in cells of all animals, plants, fungi and bacteria, which indicates its importance for living cells. Individuals with a mutated and a normal SCL31A1are healthy. However, if a fetus has inherited a mutated gene both from the mother and the father, the cells of the fetus display a severely impaired uptake of copper. Copper is a trace mineral important for many enzymes in the cells, notably nerve cells in the brain. Most fetuses with this type of impaired copper uptake die well before birth. The few who survive develop difficult-to-treat seizures. They also may have bleeding into the brain. The brain gradually dissolves, and the infants eventually dies. There is no approved treatment for this disease, and early death in infancy or childhood is expected.