- Common inherited treatable metabolic epilepsies.
| IEM | Genetic causes | Treatments |
|---|---|---|
| Pyridoxine dependent epilepsy | ALDH7A1 | Pyridoxine +/- folinic acid |
| PROSC | Arginine, Lysine restricted diet | |
| Pyridox(am)ine 50 -Phosphate oxidase (PNPO) | PNPO | PLP +/- Pyridoxine |
| Deficiency | ||
| Biotinidase deficiency | BTD | Biotin |
| Glucose transporter 1 deficiency syndrome | SLC2A1 | Ketogenic diet |
| Biotin-thiamine-responsive basal ganglia disease | SLC19A3 | Biotin, Thiamine |
| Serine biosynthesis defects | PHGDH, PSAT1, PSPH | Serine + Glycine |
| Molybdenum cofactor deficiency type - A | MOCS1 | cyclic pyranopterin monophosphate |
| Cobalamin C deficiency | MMACHC | cobalamin, betaine |
| Cerebral folate deficiency | FOLR1 | Folinic acid |
| Creatine deficiency syndromes | GAMT | Creatine, arginine-restricted diet, ornithine |
| GATM | creatine monohydrate | |
| SLC6A8 | creatine monohydrate | |
| Pyruvate dehydrogenase deficiency | PDHA1 PDHB, DLAT, PDHX, PDP1 | Ketogenic diet |
| DEND (developmental delay, epilepsy, and neonatal diabetes) syndrome | KCNJ11 | sulfonylurea |
| Hyperinsulinism-Hyperammonemia syndrome | GLUD1 | Diazoxide + protein restriction |
| Tetrahydrobiopterin deficiency (BH4) | ||
| PTPS deficiency | PTS | BH4, L-dopa, 5-HTP |
| DHPR deficiency | QDPR | Low phenylalanine diet, Folinic acid, L-dopa, |
| GTPCH deficiency | GCH1 | 5-HTP |
| PCD | PCBD1 | |
| SPR deficiency | SPR | L-Dopa, 5-HTP |