Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives [PDF]
Journal of Cardiovascular Development and DiseaseGeneralized Arterial Calcification of Infancy (GACI) is a rare autosomal recessive disorder characterized by pathological calcium deposition in large and medium-sized arteries, leading to severe cardiovascular complications such as hypertension, heart ...
Biagio Castaldi, Elettra Pomiato
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Characterization of Hearing-Impairment in Generalized Arterial Calcification of Infancy (GACI) [PDF]
Orphanet Journal of Rare Diseases, 2022 Background and importance Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy. Objectives
Carlos R Ferreira +2 more
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PLoS Genetics, 2022 Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent
Michael E. Levine +2 more
exaly +5 more sources
Journal of Multidisciplinary Healthcare, 2022 Kenji Kawai,1,* Yu Sato,1,* Rika Kawakami,1 Atsushi Sakamoto,1 Anne Cornelissen,1 Masayuki Mori,1 Saikat Ghosh,1 Robert Kutys,1 Renu Virmani,1 Aloke V Finn1,2 1CVPath Institute, Gaithersburg, MD, USA; 2University of Maryland, School of Medicine ...
Yu Sato +2 more
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Case Report: Delivery or not, generalized arterial calcification of infancy in China [PDF]
Frontiers in MedicineGeneralized arterial calcification of infancy (GACI) is an extremely rare, often fatal condition characterized by widespread calcification and stenosis of both large and medium-sized arteries. The majority of cases are caused by biallelic variants in the
Yanxiu Guo +4 more
doaj +2 more sources
Prospective Phenotyping of Long-Term Survivors of Generalized Arterial Calcification of Infancy (GACI) [PDF]
Genetics in Medicine, 2021 Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a membrane transporter. The natural history of GACI survivors has not been established in a prospective fashion.
William A Gahl +2 more
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Vitamin K Reduces Hypermineralisation in Zebrafish Models of PXE and GACI [PDF]
Development (Cambridge), 2015 The mineralisation disorder pseudoxanthoma elasticum (PXE) is associated with mutations in the transporter protein ABCC6. Patients with PXE suffer from calcified lesions in the skin, eyes and vasculature, and PXE is related to a more severe vascular calcification syndrome called generalised arterial calcification of infancy (GACI).
Eirinn W. Mackay, Stefan Schulte-Merker
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Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report [PDF]
ChildrenGeneralized arterial calcification of infancy (GACI) is a rare disease characterized by arterial calcification. GACI is caused by a mutation in the ENPP1 or ABCC6 genes. GACI causes severe hypertension and heart failure, and approximately 50% of patients
Masato Tanaka +8 more
doaj +2 more sources
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy [PDF]
BMC PediatricsENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) plays a critical role by converting extracellular ATP to AMP, generating extracellular PPi, a potential inhibitor of calcification.
Hafiza Noor Ul Ayan +11 more
doaj +2 more sources
Treatment of Hypophosphatemic Rickets in Generalized Arterial Calcification of Infancy (GACI) Without Worsening of Vascular Calcification [PDF]
American Journal of Medical Genetics, Part A, 2016 Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life. About half of them die within the first 6 months despite optimal medical care. A subset of those who survive eventually develop hypophosphatemic rickets.
William A Gahl +2 more
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