Hereditary Aceruloplasminemia is a rare disorder caused by a loss-of-function mutation in the ceruloplasmin gene, resulting in an absence of ceruloplasmin ferroxidase acitivity in the serum.


Inheritance: autosomal recessive


Iron accumulates in:

(1) hepatocytes

(2) the reticuloendothelial cells of the liver and spleen

(3) the peripheral region of the retina

(4) beta cells of the pancreas

(5) the basal ganglia

(6) astrocytes and neurons in the CNS


Clinical features:

(1) dementia

(2) dysarthria

(3) dystonia

(4) visual impairment

(5) diabetes mellitus


Laboratory findings:

(1) microcytic anemia unresponsive to iron therapy

(2) elevated serum ferritin

(3) absence of serum ceruloplasmin ferroxidase activity


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