Table 3 Details on treatment with uridine supplement.
Patient | F1:II.3 | F2:II.2 | FiN | UP3.1 | UP3.2 | UP4 | UP5 | UP7 | UP9 | UP10 |
|---|---|---|---|---|---|---|---|---|---|---|
Final dose of uridine in mg/kg/day | 100 | 100 | 67 | 120 | 75 | 120a | 134 | 89 | 150 | 87 |
Preparation given in mg/kg/day | U | U 100, later UMP 132 | UMP 100 | UMP160 | UMP 108 | UT | UMP 200 | UMP130 | UMP183 | U 87, later UMP 115 |
Age at start treatment (years) | 3 | 5.2 | 5 | 3.1 | 10.5 | 5.5 | 6 | 6.1 | 3.5 | 3.6 |
Follow up (months) | 48 | 48 | 7 | 20 | 20 | 19 | 12 | 5 | 6 | 5 |
Seizures before uridine | Single self-limiting seizures | Recurrent therapy refractory SE | Difficult to control seizures, no SE | Difficult to control seizures, SE | Controlled seizures | Difficult to control seizures, no SE | Difficult to control seizures, no SE | Controlled seizures | Recurrent therapy refractory SE | Recurrent therapy refractory SE |
Improved seizure control (details) | + (No more seizures) | + (From >100 series of spasms immediately seizure free, after some months again self-limiting seizures, no further SE) | + (no more seizures) | + (no more seizures) | Unchanged (already seizure free before uridine, only slow reduction of AED because of some focal EEG alterations) | + (Initially improved to one seizure every few months, but worsened again, with monthly self-limiting seizures) | + (2 seizures/6 months, but multiple atonic drops, currently controlled) | Unchanged (already seizure free before uridine) | + (Clinically no seizures, but continuous epileptiform activity on EEG) | + (1 Self-limiting seizure/month, no more recurrent SE) |
Sparing of antiepileptic drugs (details) | Not applicable | + (CBZ, PER stop; ESM in reduction; ZNS, LCM continued) | + (Clonazepam, VPA stop; LEV, LTG continued) | + (CLP, STM continued, VPA in reduction) | − (Sultiame in reduction) | − (CLB, LEV continued) | − (CLB, LEV, VPA, eslicarbazepine. continued) | + (VPA stop, RUF, LTG continued) | + (CLB, GBP, LCM, VGB stop, bromine, LEV continued) | − (OXC, VPA continued) |
Effect on development, motor skills, etc. | Development restarted, but is still delayed, able to walk and run, communicate with sentences, attending school with support | Regained ability to walk some steps with walker, no further deterioration, regained swallowing, eats fully oral, improved balance, further only very little improvement mainly due to lack of “drive/interest,” very much “in her own world” | Learned to walk and run, communicates with sentences | Relearned walking | Slight improvement in alertness | Very limited effect on GDD, parents report increased alertness and interest | Relearned to walk, improved movement disorder, but still mild ataxia, tremor of upper limb; talks and can express his needs, has bladder control, relearned to swallow, G-tube removed, eats orally | Tremor and ataxia nearly resolved, speaks in 4–5 word sentences, learned more words, can walk backwards, more alert, better attention span | Very little; improved head control, can conduct commands for aided communication with eye movements | Good developmental progress especially with regard to receptive and expressive language development and motor function, now sitting without support |
Anemia/anisopoikilocytosis resolved | + | + | + | + | + | + | + | Nearly normalized | +/a | + |
