Introducing PDE reach5
A protein substitute specifically designed for the dietary management of Pyridoxine Dependent Epilepsy (PDE)
Initial Presentation and Early Life
- Infant born in thick, green amniotic fluid. Sedated and intubated, did not breathe independently until 12 minutes old. Transferred to NICU for cooling treatment and developed metabolic acidosis.
- First seizure occurred at one day old, anti-seizure medication (ASM) commenced.
- At five days old, MRI Cerebrum revealed changes compatible with severe acute hypoxic-ischemic encephalopathy.
- Seizures continued with varying frequency and were ascribed to the assumed brain damage caused by asphyxia at birth.
- At four months old, genetic testing was carried out and referral made to epilepsy hospital for further diagnostics and treatment.
- At five and a half months old, genetic testing results revealed ALDH7A1 PDE.
Dietitic Assessment
Aim
Reduce intake of L-lysine from the diet to promote metabolic control, whilst ensuring optimal lysine-free protein intake to facilitate normal growth and development.
Nutritional Requirements
| Dietary protein = 0.8g/kg/day | Protein substitute = 0.8g/kg/day |
| L-Arginine = 200mg/kg/day | L-Tryptophan = 20mg/kg/day |
Biochemistry
Patient Journey Timeline
0 months
Formula fed from birth with standard infant formula as breastfeeding not possible.
WFL Z-score: 0.57
5.5 months
Triple therapy (pyridoxine supplementation, arginine supplementation, a lysine-restricted diet and use of a PS) initiated. GA1-specific formula (GA1SF) used as PS.
7 months
Stopped all ASM.
WFL Z-score: -0.42
10 months
GA1SF stopped as child no longer accepting. GA1 gel introduced, parents encouraged to continue with this as better accepted and a lower volume needed to meet requirements.
11 months
WFL Z-score: 0.57
22 months
Introduced to PDE reach 5, child accepting when mixed with water.
24 months
WFL Z-score: 1.49
Discussion
The parents in this case study saw little improvement in their child’s seizures with anti-seizure medication and were eager to commence triple therapy as his main treatment for PDE. Triple therapy reduced medication burden as ASM could be stopped.
Establishing adherence with an amino-acid based protein substitute may be difficult, with the variety of options possibly feeling overwhelming for families or confusing for children. Therefore, once a child becomes accustomed to a protein substitute, there may be reluctance amongst parents to switch to another.
Despite their child already being established on GA1 gel, the parents in this case study were willing to try PDE reach5 due to its disease-specific nutritional profile; unlike GA1 protein substitutes, PDE reach5 is not low in tryptophan. They were grateful for the introduction of PDE reach5, feeling reassured that the protein substitute they were offering their child was made specifically for his needs and not “borrowed” from another disorder. Initially, the child was being given PDE reach5 mixed with grape juice and struggled to accept it, but when mixed with just water, PDE reach5, which is pre-flavoured, was accepted.
Conclusions
PDE reach5 is the only protein substitute tailored to the unique nutritional needs of individuals living with PDE.
When used as part of a triple therapy approach in the treatment of PDE, PDE reach5 is able to maintain metabolic control and facilitate normal growth in children.
Offering families the choice of a PDE-specific protein substitute may help to provide reassurance that their child is receiving the most appropriate treatment for their rare condition at a possibly distressing and isolating time. For some, this reassurance may be an acceptable trade-off for the potential challenges ensuing when establishing their child on a new supplement regime.
