Novel ENPP1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report

Generalized Arterial Calcification of Infancy (GACI), a complex disorder affecting multiple systems, stems from an autosomal recessive mutation in the ENPP1 gene. This condition is marked by arterial stenosis and usually manifests prenatally or in the initial months following birth. High mortality rates characterize the first few months, a phase often termed the "critical period." The report presents a case study of a four-year-old female with a new mutation in the ENPP1 gene, which broadens our understanding of this rare genetic disorder.