Search
alpha-methylacyl-CoA racemase (AMACR) deficiency
Genetics:
- associated with defects in AMACR
Clinical manifestations:
- adult onset sensory motor neuropathy
Laboratory:
- elevated concentrations of pristanic acid (serum,urine ?)
- alpha-methylacyl CoA racemase in fibroblasts
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 604489
References
OMIM :accession 604489