Folic Acid


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Folic Acid

Folic acid was the first medication reported to be beneficial for individuals with FXS (Lejeune 1982). When added to tissue culture media, folate will decrease cytogenetic expression of the fragile site (Jacky 1996). However, its mechanism of action in the central nervous system seems to be unrelated to its cytogenetic effect. In the CNS folate is involved with methylation and hydroxylation, and both reactions are important in neurotransmitter synthesis and metabolism (Greenblatt et al. 1994). Folate is concentrated in the synaptic regions of CNS neurons (McClain et al. 1975). Levine et al. (1981) speculated that exogenous folate may accelerate dopamine synthesis in nigrostriatal neurons through effects on tyrosine hydroxylase. Preliminary reports from Lejeune (1982) and others (Harpey 1982; Lacassie et al. 1984; Lejeune et al. 1984) anecdotally demonstrated improvement in behavior and development in males with FXS treated with folic acid. Subsequent controlled studies showed mixed results, with some reporting no benefit from folic acid (Rosenblatt et al. 1985; Brown et al. 1986; Froster-Iskenius et al. 1986; Madison et al. 1986; Fisch et al. 1988), whereas others demonstrated improvement with folic acid treatment (Carpenter et al. 1983; Brown et al. 1984; Gustavson et al. 1985; Gillberg et al. 1986; Hagerman et al. 1986; for review see Aman and Kern 1990; Turk 1992; and Greenblatt et al. 1994).

Folic Acid: Continued

This article is not intended to give medical advice for individual cases. Any change in medical treatment should be done in consultation with appropriate medical personnel. This article is written for medical professionals. Some of the terms will be unfamiliar to those who are not trained in medical fields.

*This article is from the chapter on treatment in the 3rd edition of Fragile X Syndrome: Diagnosis, Treatment, and Research edited by Randi Jenssen Hagerman, M.D. and Paul Hagerman, M.D., Ph.D., to be published May 2002. It is included with permission from The Johns Hopkins University Press. References to other chapters refer to chapters in the book which are not included as part of this website.

The complete 3rd edition of Fragile X Syndrome: Diagnosis, Treatment, and Research can be ordered from the National Fragile X Foundation by calling 1-800-688-8765 or from The Johns Hopkins University Press at 1-800-537-5487.

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