Generalized arterial calcification of infancy (GACI) is an extremely rare[2] genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects[3] or in mutations in the ABCC6 genes in 10% of patients.[4] However, sometimes individuals affected with GACI do not have mutations in the ENPP1 or ABCC6 gene and in those cases the cause of the disorder is unknown.[4]
The condition usually affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.[5] Unfortunately, many infants die of vaso-occlusive disease, especially of the coronary arteries.[6]
^Witzleben, C.L (1970). "Idiopathic infantile arterial calcification—A misnomer?". The American Journal of Cardiology. 26 (3): 305–9. doi:10.1016/0002-9149(70)90798-8. PMID4196111.
^Chong, Curtis R.; Hutchins, Grover M. (2008). "Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations". Pediatric and Developmental Pathology. 11 (5): 405–15. doi:10.2350/07-06-0297.1. PMID17990935. S2CID9031166.
^Rutsch, Frank; Ruf, Nico; Vaingankar, Sucheta; Toliat, Mohammad R.; Suk, Anita; Höhne, Wolfgang; Schauer, Galen; Lehmann, Mandy; et al. (2003). "Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification". Nature Genetics. 34 (4): 379–81. doi:10.1038/ng1221. PMID12881724. S2CID12784972.