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ABCC6 deficiency is a rare, inherited, genetic inborn error of metabolism caused by mutations in the ABCC6 gene. It is estimated that there more than 67,000 individuals worldwide with this systemic and progressively debilitating condition. ABCC6 deficiency is inherited as a recessive trait in which the genetic mutations result in decreased or absent activity of the ABCC6 protein. The deficiency leads to low plasma levels of PPi and is associated with pathological mineralization in blood vessels and soft tissues throughout the body, resulting in significant morbidity, including blindness, life-threatening cardiovascular complications, and skin calcification. The pathological mineralization associated with ABCC6 deficiency is the result of ectopic calcification in elastic fibers, a component of connective tissue, which provides strength and flexibility to structures throughout the body. Ectopic calcification can affect function in elastic fibers in the eyes, blood vessels, and skin, and less frequently in other areas such as the digestive tract.
- Risseeuw S, Ossewaarde-van Norel J, Klayer CCW, Colijn JM, Imhof SM, van Leeuwen R. Visual acuity in pseudoxanthoma elasticum. Retina. 2019;39(8):1580-1587.