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Contributors: Andrea Wasilewski MD, Richard L. Barbano MD, PhD
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Aceruloplasminemia is a rare autosomal recessive disorder resulting in the absence of ceruloplasmin due to a genetic mutation in the ceruloplasmin gene. It is classified as a neurodegenerative disorder with brain iron accumulation. The incidence of this condition is approximately 1 in every 2 million individuals, and it is most commonly seen in Japan.

As a result of ceruloplasmin deficiency, iron metabolism is impaired, resulting in iron deposition in multiple organs, most notably the brain, retinas, and pancreas. Patients classically present with a triad of neurologic symptoms, retinal degeneration, and type 1 diabetes. Patients also have iron deficiency anemia with microcytosis and elevated ferritin. Diabetes and anemia are often the initial presenting symptoms, followed by neurologic dysfunction. Neurologic symptoms include cognitive impairment, psychiatric symptoms, ataxia, and motor dysfunction, often with movement disorders or parkinsonism. Diabetes and retinal pathology present in the teenage years or early adulthood, while neurologic symptoms typically present in adulthood, often after the age of 40 years. Prognosis is poor, with most patients developing progressive neurologic dysfunction and dementia.


E83.10 – Disorder of iron metabolism, unspecified

124224004 – Deficiency of ferroxidase

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Differential Diagnosis & Pitfalls

  • Wilson disease
  • Fahr syndrome
  • Hypermagnesemia
  • Pantothenate kinase-associated neurodegeneration
  • Neuroferritinopathy
  • Mitochondrial membrane protein-associated neurodegeneration
  • Infantile neuroaxonal dystrophy
  • Hemochromatosis
  • Cerebral amyloid angiopathy
  • Alzheimer disease
  • Dementia
  • Creutzfeldt-Jakob disease
  • Paraneoplastic encephalomyelitis
  • Progressive multifocal leukoencephalopathy

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Last Reviewed:05/17/2021
Last Updated:05/17/2021
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A medical illustration showing key findings of Aceruloplasminemia
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