Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
- 22 March 2005
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 64 (6), 1088-1090
- https://doi.org/10.1212/01.wnl.0000154641.08211.b7
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.Keywords
This publication has 7 references indexed in Scilit:
- Cognitive and adaptive behavior profiles of children with Angelman syndromeAmerican Journal of Medical Genetics Part A, 2004
- Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndromeNeurology, 2003
- Reduced folate transport to the CNS in female Rett patientsNeurology, 2003
- The molecular basis of glutamate formiminotransferase deficiencyHuman Mutation, 2003
- Psychomotor Retardation, Spastic Paraplegia, Cerebellar Ataxia and Dyskinesia Associated with Low 5-Methyltetrahydrofolate in Cerebrospinal Fluid: A Novel Neurometabolic Condition Responding to Folinic Acid SubstitutionNeuropediatrics, 2002
- Disorders of Cobalamin and Folate Transport and MetabolismPublished by Springer Science and Business Media LLC ,2000
- Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.Journal of Neurology, Neurosurgery & Psychiatry, 1994