aceruloplasminemia (ceruloplasmin deficiency)

Pathology

• disorder of iron metabolism
• iron accumulation in the brain as well as visceral organs

Genetics

• autosomal recessive
• associated with defects in ceruloplasmin

Clinical manifestations

• triad of
  • retinal degeneration
  • diabetes mellitus
  • central nervous system disease

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/604290