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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
General
inborn error of metabolism
Database Correlations
OMIM 604290
References
OMIM :accession 604290