Aceruloplasminaemia: a disorder of diabetes and neurodegeneration

Intern Med J. 2017 Jan;47(1):115-118. doi: 10.1111/imj.13309.

Abstract

Aceruloplasminaemia is an autosomal recessive disorder of iron metabolism which is characterised by diabetes, neurodegeneration and anaemia. It should be considered in the differential diagnosis of adult onset, antibody-negative diabetes associated with persistent mild anaemia and hyperferritinaemia and/or progressive neuropsychiatric impairments.

Keywords: aceruloplasminaemia; anaemia; diabetes; iron metabolism; neurodegeneration.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Benzoates / administration & dosage
  • Brain / diagnostic imaging
  • Ceruloplasmin / analysis*
  • Ceruloplasmin / deficiency*
  • Copper / blood
  • Deferasirox
  • Diabetes Mellitus, Type 2 / complications*
  • Diagnosis, Differential
  • Ferritins / blood
  • Humans
  • Insulin / administration & dosage
  • Iron / blood*
  • Iron Chelating Agents / administration & dosage
  • Iron Metabolism Disorders / diagnosis*
  • Iron Metabolism Disorders / drug therapy*
  • Magnetic Resonance Imaging
  • Male
  • Neurodegenerative Diseases / diagnosis*
  • Neurodegenerative Diseases / drug therapy*
  • Triazoles / administration & dosage

Substances

  • Benzoates
  • Insulin
  • Iron Chelating Agents
  • Triazoles
  • Copper
  • Ferritins
  • Iron
  • Ceruloplasmin
  • Deferasirox

Supplementary concepts

  • Familial apoceruloplasmin deficiency