Cerebral folate transport deficiency

Common Name(s)

Cerebral folate transport deficiency, FOLR1 deficiency

This is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function ({1:Steinfeld et al,. 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebral folate transport deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebral folate transport deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
 

Author(s): M Grapp, I A Just, T Linnankivi, P Wolf, T Lücke, M Häusler, J Gärtner, R Steinfeld

Journal: Brain. 2012 Jul;135(Pt 7):2022-31.

 

Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). This genetic defect gives rise to a progressive neurological disorder with late infantile ...

Last Updated: 26 Jun 2012

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Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
 

Author(s): Robert Steinfeld, Marcel Grapp, Ralph Kraetzner, Steffi Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Ron Wevers, Salvatore Grosso, Jutta Gärtner

Journal: Am. J. Hum. Genet.. 2009 Sep;85(3):354-63.

 

Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all of which cause systemic folate deficiency. We identified an inherited ...

Last Updated: 7 Sep 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cerebral folate transport deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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