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

Authors

• Haifa M. AlTurki, Department of Neuroscience, Centre for Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
• Haya S. AlFaris, Department of Neuroscience, Centre for Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
• Mohammed A. Al-Owain, Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
• Musaad F. Abukhalid, Department of Neuroscience, Centre for Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi ArabiaFollow

Abstract

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.

Article Type

Book Review

First Page

80

Last Page

84

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License

Recommended Citation

AlTurki, Haifa M.; AlFaris, Haya S.; Al-Owain, Mohammed A.; and Abukhalid, Musaad F. (2026) "Novel ENPP1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report," Neurosciences: Vol. 31: Iss. 1, Article 12.
DOI: https://doi.org/10.17712/1658-3183.1011