Successful Treatment of Cerebral Folate Transporter Deficiency With Intravenous Folinic Acid

Pediatr Neurol. 2022 Oct:135:22-24. doi: 10.1016/j.pediatrneurol.2022.07.005. Epub 2022 Jul 14.

Authors

Fatima Jaafar¹, Makram Obeid²

Affiliations

¹ Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
² Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Department of Anatomy, Cell Biology and Physiological Sciences, American University of Beirut, Beirut, Lebanon. Electronic address: mo21@aub.edu.lb.

PMID: 35970100
DOI: 10.1016/j.pediatrneurol.2022.07.005

No abstract available

Keywords: Cerebral folate transporter deficiency; Developmental regression; Epilepsy; Folinic acid; Refractory seizures.

Publication types

Letter

MeSH terms

Folate Receptor 1* / deficiency
Folic Acid
Humans
Leucovorin / therapeutic use
Neuroaxonal Dystrophies*

Substances

Folate Receptor 1
Folic Acid
Leucovorin

Supplementary concepts

Neurodegeneration Due To Cerebral Folate Transport Deficiency