PIGM-congenital disorder of glycosylation

Definition:

PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this disorder.

References:

[1]. Antonio M Almeida, et al. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med. 2006 Jul;12(7):846-51. [Content Brief]

[2]. Antonio M Almeida, et al. Targeted therapy for inherited GPI deficiency. N Engl J Med. 2007 Apr 19;356(16):1641-7. [Content Brief]

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