Metabolic Causes of Epileptic Encephalopathy

<table class="table-group" id="tab10"><tr><td><table class="table"><tr><td class="thead-hr" colspan="4"><hr/></td></tr><tr class="thead"><td align="left">Disorder</td><td align="left">Defective enzyme </td><td align="left">Biochemical characteristics</td><td align="left">Seizure characteristics</td></tr><tr><td class="thead-hr" colspan="4"><hr/></td></tr><tr><td align="left">Lesch-Nyhan Disease (LSD)</td><td align="left">hypoxanthine-guanine phosphoribosyl transferase</td><td align="left">↑ Uric acid</td><td align="left">Predominantly generalized tonic-clonic, developing in early childhood</td></tr><tr><td align="left">Adenylosuccinase deficiency</td><td align="left">Adenylosuccinate lyase</td><td align="left">↑ succinylaminoimidazole carboxamide riboside<br/>↑ succinyladenosine</td><td align="left">Neonatal seizures <br/>Severe infantile epileptic encephalopathy</td></tr><tr class="table-tr"><td colspan="4"><hr class="tbody-hr"/></td></tr></table></td></tr></table>

Purine and pyrimidine metabolism disorders involving epilepsy.

Epilepsy Research and Treatment

tab10

Table 10

Table 10: Metabolic Causes of Epileptic Encephalopathy 