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cerebral folate deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebral folate deficiency

MONDO:0100034

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Overview

Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for cerebral folate deficiency has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

18 publications have been identified in PubMed for cerebral folate deficiency. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	6	35%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

cerebral folate deficiency

Overview

Diagnosis

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

GSK again pulls application for leucovorin, touted by FDA as potential autism treatment

What the Leucovorin Approval Signals—or Doesn’t—About the FDA’s Rare Disease Stance

FDA Approves First Treatment for Patients with Cerebral Folate Transport Deficiency

FDA approves Wellcovorin for ultra-rare disease. The Trump admin touted it as a treatment for autism

cerebral folate deficiency

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

GSK again pulls application for leucovorin, touted by FDA as potential autism treatment

What the Leucovorin Approval Signals—or Doesn’t—About the FDA’s Rare Disease Stance

FDA Approves First Treatment for Patients with Cerebral Folate Transport Deficiency

FDA approves Wellcovorin for ultra-rare disease. The Trump admin touted it as a treatment for autism