Review Article
Metabolic Causes of Epileptic Encephalopathy
Table 5
Serine synthesis defects.
| Disorder | Epilepsy and neuroimaging features | Response to treatment with L-serine and glycine |
| 3-Phosphoglycerate dehydrogenase deficiency | Infantile phenotype: | Infantile phenotype: | (i) intractable seizures | (i) Seizure control or significantly lowered frequency | (ii) MRI: hypomyelination and delayed myelination | (ii) Increased white matter volume | Juvenile phenotype: | Juvenile phenotype: | (i) absence seizures | (i) Seizure control | (ii) MRI: no abnormalities | (ii) Prevention of neurological abnormalities | Phosphoserine Aminotransferase deficiency | Symptomatic patient: | Symptomatic patient: | (i) intractable seizures | (i) No clinical response to treatment | (ii) MRI: generalized atrophy, including cerebellar vermis and pons, white matter abnormalities | | Presymptomatic patient: | Presymptomatic patient: | (i) MRI: no abnormalities | (i) Prevention of all neurological abnormalities | Phosphoserine phosphatase deficiency | Single case, details not reported | Not reported |
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Adapted from Pearl [2].
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