Case Report: Cerebral folate deficiency caused by FOLR1 variant

• Main Authors: Qian Wang (Author), Jie Yang (Author), Chunmei Yu (Author), Yao Deng (Author), Qianhui Wen (Author), Hua Yang (Author), Hao Liu (Author), Rong Luo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundCerebral folate transport deficiency (CFD) is a rare neurological disease characterized by a deficiency in 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid, with a normal peripheral total folate level. Late infantile-onset refractory seizures, ataxia, movement disorders, hypoto...