Ceruloplasmin replacement therapy

Aceruloplasminemia is a monogenic disease produced by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activityCeruloplasmin plays a big role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes degeneration, diabetes, and progressive neurodegeneration.

 

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