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Summary
ACERULOPLASMINEMIA
HYPOCERULOPLASMINEMIA CERULOPLASMIN DEFICIENCY HEMOSIDEROSIS, SYSTEMIC
604290
OMIM = Online Medalian Inheritance of Men
48818
3q24-q25
  • desferrioxamine
rare - 1:2.000.000 (Japan)
autosomal recessive
symptoms
anemia
ataxia
chorea or athetosis
clumsiness, coordination defect or unsteadiness
cognitive impairment
dementia
diabetes mellitus
hypotonia
liver involvement or dysfunction
onset, adulthood
retinal or macular degeneration
tremor or twitching
laboratory finding
Iron decreasedserum
Ceruloplasmin decreasedserum
Copper decreasedserum
Ceruloplasmin ferroxidase * decreased activity
MRI, brain, abnormalities -
Ferritin increasedserum
Literature
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