Here I present: “Methylmalonic Aciduria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MMA) icd10=E71.120
INTRODUCTION.
Methylmalonic aciduria (MMA) is a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats. This leads to a buildup of a toxic level of methylmalonic acid in body liquids and tissues. Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are among the classical organic acidemias.
There is evidence methylmalonic aciduria (MMA) of the complementation group ‘mut’ is caused by homozygous or compound heterozygous mutation in the gene encoding methylmalonyl-CoA mutase (MMUT) on cytogenetic location 6p12.3 and genomic coordinates 6:49,430,360-49,463,253. The screenshot of the MMUT gene 32,894 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MMUT in the 6p12.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:47,656,472 | ADGRF2 | Adhesion G protein-coupled receptor F2 |
| 6:47,698,580 | ADGRF4 | Adhesion G protein-coupled receptor F4 |
| 6:47,782,032 | OPN5 | Opsin 5 |
| 6:47,856,673 | PTCHD4 | Patched domain-containing protein 4 |
| 6:49,430,360 | MMUT | Methylmalonyl-CoA mutase |
| 6:49,463,370 | CENPQ | Centromeric protein Q |
| 6:49,499,923 | GLYATL3 | Glycine N-acyltransferase-like 3 |
| 6:49,605,175 | RHAG | Rhesus blood group-associated glycoprotein |
| 6:49,676,652 | CRISP2 | Cysteine-rich secretory protein 2 |
| 6:49,727,376 | CRISP3 | Cysteine-rich secretory protein 3 |
