Generalized arterial calcification of infancy 2

Common Name(s)

Generalized arterial calcification of infancy 2

Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by {5:Rutsch et al., 2003} and {1:Cheng et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 ({208000}). Pseudoxanthoma elasticum (PXE; {264800}) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders ({4:Nitschke et al., 2012}).
 

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Scientific Literature

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