Here I present: “α-Methylacyl-CoA Racemase Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (AMACR).
INTRODUCTION.
α-Methylacyl-CoA Racemase is an enzyme with Enzyme Commission number of EC# 5.1.99.4.
α-Methylacyl-CoA Racemase(AMACR) deficiency is an autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased.
Reduction of the protein level or activity results in the accumulation of (2R)-methyl fatty acids such as bile acids which causes neurological symptoms. The symptoms are similar to those of adult Refsum disease and usually appear in the late teens or early twenties.
There is evidence that α-Methylacyl-CoA Racemase deficiency is caused by homozygous mutation in the AMACR gene on cytogenetic location 5p13.2 and genomic coordinates 5:33,986,165-34,008,050. The screenshot of the AMACR gene 21,886 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides AMACR in the 5p13.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:33,523,535 | ADAMTS12 | ADAM metallopeptidase thrombospondin 1 motif 12 |
| 5:33,800,001 | MS3 | Multiple sclerosis, susceptibility to, 3 |
| 5:33,936,386 | RXFP3 | Relaxin/insulin-like family peptide receptor 3 |
| 5:33,944,623 | SLC45A2 | Solute carrier family 45, member 2 |
| 5:33,986,165 | AMACR | Alpha-methylacyl-CoA racemase |
| 5:34,017,858 | C1ATNF3 | C1q- and tumor necrosis factor-related protein 3 |
| 5:34,656,328 | RAI14 | Retinoic acid-induced 14 |
| 5:34,839,164 | TTC23L | Tetratricopeptide repeat domain protein 23-like |
| 5:34,905,260 | RAD1 | RAD1 checkpoint DNA exonuclease |
| 5:34,915,711 | BRIX1 | Biogenesis of ribosomes BRIX1 |
