Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

Definition:

Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, lead to failure to absorb fat and deficiency of fat-soluble vitamins.

References:

[1]. Eyal Shteyer, et al. Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet. 2009 Mar;84(3):412-7. [Content Brief]

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