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Orphanet J Rare Dis2025;20(1):593.November 19, 2025Journal Article

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

Marta Bertamino1, David J Goldberg2, M Zulf Mughal3, Lisa Pabst4, Yaping Joyce Liao5,6, Lisa R Sun7, Jane Beckwell8, Amina Kozaric8, Ruth du Moulin9, Katie Swanner9, Carlos R Ferreira10, Shira G Ziegler11
1Physical Medicine and Rehabilitation Unit, IRCCS Instituto Giannina Gaslini, Genoa, Italy.
2Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
3Department of Pediatric Endocrinology, Al Jalila Children's Specialty Hospital, Dubai, UAE.
4Division of Neurology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
5Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
6Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
7Division of Pediatric Neurology, Division of Stroke, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
8Genomenon, Inc, Ann Arbor, MI, USA.
9Inozyme Pharma, Boston, MA, USA.
10Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
11Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. sgziegler@jhmi.edu.
PubMed PMC DOI PDF

Abstract

BACKGROUND: ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), or the adolescent-adult phenotype, pseudoxanthoma elasticum (PXE). To date, the impact of ABCC6 deficiency in a pediatric population has not been comprehensivel…

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