Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation
Background Cerebral folate transporter deficiency caused by FOLR-1 mutations has been described in 2009. This condition is characterized by a 5MTHF level <5 nmol/l in the CSF, along with regression of acquisition in the second year of life, ataxia, and refractory myoclonic epilepsy. Oral or intra...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
13 June 2016
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| In: |
European journal of paediatric neurology
Year: 2016, Jahrgang: 20, Heft: 5, Pages: 709-713 |
| ISSN: | 1532-2130 |
| DOI: | 10.1016/j.ejpn.2016.05.021 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1016/j.ejpn.2016.05.021 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1090379816300782 
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| Verfasserangaben: | Françoise Delmelle, Beat Thöny, Philippe Clapuyt, Nenad Blau, Marie-Cécile Nassogne |
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| 245 | 1 | 0 | |a Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation |c Françoise Delmelle, Beat Thöny, Philippe Clapuyt, Nenad Blau, Marie-Cécile Nassogne |
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| 520 | |a Background Cerebral folate transporter deficiency caused by FOLR-1 mutations has been described in 2009. This condition is characterized by a 5MTHF level <5 nmol/l in the CSF, along with regression of acquisition in the second year of life, ataxia, and refractory myoclonic epilepsy. Oral or intravenous folinic acid (5-formyltetrahydrofolate) treatment has been shown to improve clinical status. Case presentation We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430). Following recommendations, we administered oral folinic acid at 5 mg/kg/day, resulting in some initial clinical improvement, yet severe epilepsy persisted. During treatment, cerebrospinal fluid (CSF) analysis revealed normal 5-methyltetrahydrofolate (5MTHF) levels (60.1 nmol/l; normal range: 53-182 nmol/l). Epilepsy proved difficult to control and the younger patient exhibited neurological regression. We then administered high-dose folinic acid intravenously over 3 days (6 mg/kg/day for 24 h, then 12 mg/kg/day for 48 h), which significantly improved clinical status and epilepsy. CSF analysis revealed high 5MTHF levels following intravenous infusion (180 nmol/l). Treatment continued with monthly intravenous administrations of 20-25 mg/kg folinic acid. At 2 years post-treatment, clinical improvement was confirmed. Conclusions This report illustrates that cerebral folate transporter deficiency caused by FOLR-1 mutations is a treatable condition and can potentially be cured by folinic acid treatment. As already reported, early effective treatment is known to improve outcomes in affected children. In our study, intravenous high-dose folinic acid infusions appeared to optimize clinical response. | ||
| 650 | 4 | |a Cerebral folate deficiency | |
| 650 | 4 | |a Hypomyelination | |
| 650 | 4 | |a Inborn error of metabolism | |
| 650 | 4 | |a Neurological regression | |
| 650 | 4 | |a Treatable disorder | |
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