Here I present: “α-Ketoglutarate Dehydrogenase Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (OGDH) icd10=E88.89
INTRODUCTION.
The α-Ketoglutarate Dehydrogenase Complex is an enzyme complex (Enzyme Commission #1.2.4.2), most commonly known for its role in the citric acid cycle. Oxoglutarate dehydrogenase deficiency (OGDHD) is an alternative synonym for α-ketoglutarate dehydrogenase deficiency.
There is evidence evidence that oxoglutarate dehydrogenase deficiency is caused by homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on cytogenetic location 7p13 and genomic coordinates 7:44,606,627-44,709,066. The screenshot of the OGDH gene 102,440 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides OGDH in the 7p13 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:44,379,119 | NUDCD3 | NUDC domain-containing protein 3 |
| 7:44,512,535 | NPC1L1 | NPC1-like intracellular cholesterol transporter 1 |
| 7:44,565,804 | DDX56 | DEAD-box helicase 56 |
| 7:44,577,894 | TMED4 | Transmembrane p24 trafficking protein 4 |
| 7:44,606,627 | OGDH | Oxoglutarate dehydrogenase (α-ketoglutarate dehydrogenase) |
| 7:44,748,571 | ZMIZ2 | Zinc finger MIZ-domain containing 2 |
| 7:44,796,681 | PPIA | Peptidylprolyl isomerase A (cyclophilin A) |
| 7:44,826,889 | H2AZ2 | H2A.Z variant histone 2 |
| 7:44,876,299 | PURB | Purine-rich element-binding protein B |
| 7:44,962,662 | MYO1G | Myosin IG |
