Abstract
The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adaptation, Physiological / drug effects
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Adaptation, Physiological / physiology
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Autistic Disorder / cerebrospinal fluid
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Autistic Disorder / drug therapy*
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Autistic Disorder / etiology
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Cerebral Cortex / drug effects*
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Cerebral Cortex / growth & development*
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Cerebral Cortex / metabolism
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Child
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Developmental Disabilities / cerebrospinal fluid
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Developmental Disabilities / drug therapy*
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Developmental Disabilities / etiology
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Disease Progression
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Female
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Folic Acid / metabolism
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Folic Acid Deficiency / cerebrospinal fluid
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Folic Acid Deficiency / drug therapy*
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Folic Acid Deficiency / physiopathology
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Genetic Predisposition to Disease
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Humans
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Intellectual Disability / drug therapy
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Intellectual Disability / etiology
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Intellectual Disability / metabolism
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Leucovorin / administration & dosage*
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Mutation / genetics
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Recovery of Function / drug effects
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Recovery of Function / physiology
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Reduced Folate Carrier Protein / genetics
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Seizures / cerebrospinal fluid
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Seizures / drug therapy*
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Seizures / etiology
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Tetrahydrofolates / cerebrospinal fluid
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Transcription Factors / genetics
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Treatment Outcome
Substances
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Reduced Folate Carrier Protein
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SLC19A1 protein, human
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Tetrahydrofolates
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Transcription Factors
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Folic Acid
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Leucovorin
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5-methyltetrahydrofolate