Cerebrospinal fluid values for monoamine metabolites, gamma-aminobutyric acid, and other amino compounds in Rett syndrome.
We measured concentrations of 3-methoxy-4-hydroxy-phenylglycol, 3,4-dihydroxyphenylacetic acid, homovanillic acid, and 5-hydroxyindoleacetic acid--the metabolites of noradrenaline, dopamine, and serotonin used as central neurotransmitters--in the cerebrospinal fluid (CSF) specimens of five girls with Rett syndrome. These patients met the clinical criteria for both inclusion and exclusion of the diagnosis of Rett syndrome. In contrast to previous reports, cerebral monoamine metabolites were present in normal concentrations in CSF. In addition, concentrations of gamma-aminobutyric acid and of a large number of other amino acids and related compounds were normal in the CSF of patients with the syndrome. We doubt that an underlying biochemical cause for this disorder has yet been discovered.
D000293:Adolescent; D001679:Biogenic Amines / Q000134:cerebrospinal fluid / Q000378:metabolism*; D001927:Brain Diseases / Q000134:cerebrospinal fluid* / Q000378:metabolism; D002648:Child; D002653:Child Behavior Disorders / Q000134:cerebrospinal fluid* / Q000378:metabolism; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000134:cerebrospinal fluid* / Q000378:metabolism; D005260:Female; D006801:Humans; D001523:Mental Disorders / Q000134:cerebrospinal fluid* / Q000378:metabolism; D012016:Reference Values; D013577:Syndrome; D005680:gamma-Aminobutyric Acid / Q000134:cerebrospinal fluid
D001679:Biogenic Amines; D005680:gamma-Aminobutyric Acid