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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