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Updated: May 24, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
Published on: June 28, 2024
Adult-onset cerebral folate deficiency
Zsila Sadighi1, Ian J Butler, Mary Kay Koenig
1Departments of Pediatrics and Neuro-oncology, MD Anderson Cancer Center, University of Texas Medical School at Houston, Houston, TX 77030, USA.
Objective:
To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome,in an adult.
Design:
Case report.
Setting:
University teaching hospital.
Patient:
A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies.
Results:
The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment,clinical symptoms had resolved.
Conclusions:
To our knowledge, we report the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.
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