Alpha-Methylacyl Coenzyme A Racemase (aMACR)

RACE; 2-methylacyl-CoA racemase

SPN	O117
HGNC	451
MGI	1098273
PubMed	20945498
RGD	3048
UniProt	Q9UHK6
Wiki	AMACR

AMACR deficiency has recently been discovered. The first documented case was in 2006. It is in a class of disorders called peroxisome biogenesis disorders (PBD) although it is quite different than other peroxisomal disorders and does not share classic Refsum disorder symptoms. It causes an accumulation of pristanic acid, DHCA and EHCA and to a lesser extent VLCFA and phytanic acid. "His condition would have been missed if they hadn't measured the pristanic acid concentration."

It can cause mental impairment,confusion, learning difficulties and liver damage. It can be treated by dietary elimination of pristanic and phytanic acid from meats such as beef, lamb, chicken, and dairy products, however compliance to the diet is low due to dietary habits, and loss of weight.

Reference

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J. Lipid Res. 41:1752-1759(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy."
Nat. Genet. 24:188-191(2000) [PubMed] [Europe PMC] [Abstract]

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Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Purification and characterization of an alpha-methylacyl-CoA racemase from human liver."
Eur. J. Biochem. 231:815-822(1995) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy."
Gastroenterology 124:217-232(2003) [PubMed] [Europe PMC] [Abstract]