Review Article
Metabolic Causes of Epileptic Encephalopathy
Table 10
Purine and pyrimidine metabolism disorders involving epilepsy.
| Disorder | Defective enzyme | Biochemical characteristics | Seizure characteristics |
| Lesch-Nyhan Disease (LSD) | hypoxanthine-guanine phosphoribosyl transferase | ↑ Uric acid | Predominantly generalized tonic-clonic, developing in early childhood | Adenylosuccinase deficiency | Adenylosuccinate lyase | ↑ succinylaminoimidazole carboxamide riboside ↑ succinyladenosine | Neonatal seizures Severe infantile epileptic encephalopathy |
|
|