Generalized arterial calcification of infancy

Generalized arterial calcification of infancy, abbreviated GACI, is an extremely rare genetic disorder of the blood vessels that usually appears in infants during the first six months of life. Mutations in the ENPP1 gene account for about three quarters of affected individuals, and mutations in the ABCC6 gene for roughly one in ten; in the remaining cases no causative mutation is found and the cause is unknown. It is inherited in an autosomal recessive pattern. The disease is marked by calcification of the internal elastic lamina of the arteries, which ruptures, and the resulting changes in the inner layer of the vessel wall narrow the vessel and reduce its elasticity. Many affected infants die of vaso-occlusive disease, especially of the coronary arteries.