Cerebral Folate Deficiency Research

CFD success stories

Arkansas Children's Hospital Research Success Update 

Observation is often the inspiration to explore a medical problem. While at the University of Texas Health Science Center at Houston, Dr. Richard Frye, now ACHRI’s Director of Autism Research, noticed autistic patients with cerebral folate deficiency (CFD) had improvements when treated with folinic acid. A three-year-old named Evan was among the first patients with CFD and autism that Dr. Frye diagnosed and treated. “His significant response was one the reasons I pursued diagnosis and treatment of this condition in other children,” says Dr. Frye. 

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Cerebral Folate Deficiency in Autism Spectrum Disorders, as printed in Autism Science Digest, July 2012

This article is about Evan Carkhuff, a child diagnosed with autism who went many years with neither a medical diagnosis nor an explanation for his medical condition.  Here we explain the medical science of the underlying neurodevelopmental disorder with which he was eventually diagnosed, called cerebral folate deficiency (CFD). As you will read from the description of his disorder in the accompanying article, Evan had several atypical characteristics that led some physicians down a wrong path.  Evan's story is an excellent example of a disorder that was previously thought to be rare but is now being increasingly recognized to affect some children with autism. 

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Our Journey Through Autism and Cerebral Folate Deficiency, as printed in Autism Science Digest, July 2012

This article is a companion piece to Dr. Richard Frye's article on cerebral folate deficiency (CFD).  The article details the family struggles to get a proper diagnosis for Evan Carkhuff, whom many professionals perceived as having separate, non-connected disorders.  The article also discusses the hope the Carkhuffs now have after beginning treatment for CFD with Dr. Frye and finding answers to questions about the medical basis for Evan's condition. 

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Memorial Hermann Healthcare System Patient Story

At the first appointment, Dr. Frye recommended more tests. In addition to an MRI, he ordered blood work that would be sent to a lab at a New York university. The test was to determine if Evan had an antibody that blocked the transport of folate, a B vitamin, from the blood stream across the blood-brain barrier into the nervous system. This antibody is one of the causes of Cerebral Folate Deficiency, or CFD. 

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Cerebral Folate Receptor Autoantibodies in Autism Spectrum Disorder, as printed in Molecular Psychiatry, January 2012

Cerebral folate deficiency (CFD) syndrome is a neurodevelopmental disorder typically caused by folate receptor autoantibodies (FRAs) that interfere with folate transport across the blood–brain barrier. Autism spectrum disorders (ASDs) and improvements in ASD symptoms with leucovorin (folinic acid) treatment have been reported in some children with CFD. In children with ASD, the prevalence of FRAs and the response to leucovorin in FRA-positive children has not been systematically investigated. In this study, serum FRA concentrations were measured in 93 children with ASD and a high prevalence (75.3%) of FRAs was found.

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A Milk-Free Diet Down Regulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome, as printed on NIH Public Access, July 2009

In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid.  Autoantibody cross reactivity with milk FR from different species prompted us to test the effect of a milk-free diet. 

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Cerebral Folate Deficiency Syndromes in Childhood, as printed in Archives of Neurology, May 2011

Cerebral folate deficiency may be amenable to therapeutic supplementation. Diverse metabolic pathways and unrelated processes can lead to cerebrospinal fluid 5-methyltetrahydrofolate (5-MTHF) depletion, the hallmark of cerebral folate deficiency.

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Cerebral Folate Deficiency Research Organization
P.O. Box 344
Huffman, TX  77336  
(281) 386-3942
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