P364: Variable presentation of FOLR1 related cerebral folate transport deficiency In two sisters

Genetics in Medicine Open 2026 Open access

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Authors: Punita Gupta, Corinne Schenone, Lorien Tambini King, Hend A. Abulsayen
DOI: 10.1016/j.gimo.2026.103858
Cited by: 0

Abstract

Treatment with 5-formyltetrahydrofolate (5-formylTHF; also known as folinic acid or leucovorin) was initiated at 2.5 mg/kg /day for the proband. CSF studies were performed and dosage of Leucovorin was increased gradually. She was already being treated with multiple antiepileptics.

Fields of Study & Subjects

Metabolism and Genetic Disorders Folate and B Vitamins Research Amino Acid Enzymes and Metabolism

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103858–103858
Publication date
1 January 2026
Language
EN