Here I present: “Glycogen Storage Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Glycogen storage disease (GSD) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically liver.
Glycogen storage disease III (GSD3) is caused by homozygous or compound heterozygous mutation in the (amylo-1,6-glucosidase, 4-α-glucanotransferase) AGL gene which encodes the glycogen debrancher enzyme, on cytogenetic location 1p21.2 and genomic coordinates 1:99,849,258-99,924,023 . The screenshot of the AGL gene is shown BELOW of 74,766 bp (base pairs) of DNA sequence length. Nine (9) other genes, besides AGL in the 1p21.2 cytogenetic location are shown BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:98,890,245 | PLPPR5 | Phospholipid phosphatase-related protein 5 |
| 1:99,262,924 | PLPPR4 | Phospholipid phosphatase-related protein 4 |
| 1:99,646,113 | PALMD | Palmdelphin |
| 1:99,703,970 | FRRS1 | Ferric chelate reductase 1 |
| 1:99,849,258 | AGL | Amylo-1,6-glucosidase, 4-α-glucanotransferase |
| 1:99,969,996 | SLC35A3 | Solute carrier family 35, member 3 |
| 1:100,038,095 | MFSD14A | Major facilitator superfamily domain protein 14A |
| 1:100,083,570 | SASS6 | SAS-6 centriolar assembly protein |
| 1:100,186,919 | DBT | Dihydrolipoamide branched chain transacylase |
| 1:100,266,216 | RTCD1 | RNA terminal phosphate cyclase domain protein |
