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

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/604489