Abstract
Rett's Syndrome is a progressive disorder in females characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands and seizures. Extensive laboratory investigations are usually normal with the exception of electroencephalography. To date no biochemical abnormalities have been reported. In an attempt to find a lead to the pathogenesis of this syndrome we assayed biogenic amine metabolites in the cerebrospinal fluid (CSF) of six patients, age 2-15 years, with Rett's Syndrome. The following metabolites were assayed and compared to age matched controls: 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG), homovanillic acid (HVA) and 5-hydroxyindole acetic acid (5-HIAA). Results are as follows: Mean ± S.D. (ng/ml).
Thus, norepinephrine, dopamine, and serotonin metabolites are significantly reduced in the CSF of patients with Rett's Syndrome. This may provide new insight into the pathogenesis and future therapeutic intervention in these patients.
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El-Hibri, H., Percy, A. & Butler, I. 1670 BIOGENIC AMINE METABOLISM IN RETT'S SYNDROME. Pediatr Res 19, 389 (1985). https://doi.org/10.1203/00006450-198504000-01694
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DOI: https://doi.org/10.1203/00006450-198504000-01694