Metabolic Causes of Epileptic Encephalopathy

<table class="table-group" id="tab9"><tr><td><table class="table"><tr><td class="thead-hr" colspan="4"><hr/></td></tr><tr class="thead"><td align="left">Defective enzyme</td><td align="center">Homocysteine (U, P) </td><td align="left">Additional biochemical characteristics</td><td align="left">Treatment</td></tr><tr><td class="thead-hr" colspan="4"><hr/></td></tr><tr><td align="left">Cystathionine beta-synthase (CBS)</td><td align="center">↑</td><td align="left">↑ Methionine<br/><i>↓</i> Cysteine</td><td align="left">Pyridoxine, B12, folate<br/>Methionine-restricted diet<br/>Cysteine supplementation betaine</td></tr><tr><td align="left">Methionine synthase (MTR)</td><td align="center">↑</td><td align="left">Normal or ↑ Folate<br/>Normal or ↑ Cobalamin</td><td align="left">High-dose hydroxycobalamin</td></tr><tr><td align="left">Methylene tetrahydrofolate reductase (MTHFR)</td><td align="center">↑</td><td align="left"><i>↓</i> Methionine</td><td align="left">High-dose betaine<br/>Methionine supplementation</td></tr><tr class="table-tr"><td colspan="4"><hr class="tbody-hr"/></td></tr></table></td></tr><tr class="table-fn"><td>  *(U): urine, (P): plasma. <br/></td></tr></table>

Biochemical characteristics and treatment of homocysteine metabolism disorders.

Epilepsy Research and Treatment

tab9

Table 9

Table 9: Metabolic Causes of Epileptic Encephalopathy 