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CSF and urine biogenic amine metabolites in Rett syndrome
Author(s) -
Lekman Annika,
WittEngerström Ingegerd,
Holmberg Berit,
Percy Alan,
Svennerholm Lars,
Hagberg Bengt
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03499.x
Subject(s) - homovanillic acid , urine , metabolite , endocrinology , medicine , biogenic amine , creatinine , urinary system , serotonin , cerebrospinal fluid , dopamine , rett syndrome , chemistry , biochemistry , receptor , gene
The metabolites of dopamine (homovanillic acid ‐ HVA), noradrenaline (4‐hydroxy‐3‐methoxy‐phenylglycol ‐ HMPG), and serotonin (5‐hydroxyindoleacetic acid ‐ 5‐HIAA) were measured in cerebrospinal fluid (CSF) from 38 patients and urine from 36 patients with typical Rett syndrome (RS) and compared with controls of similar age. CSF metabolite concentrations were the same in the patients and controls. Urinary metabolites expressed per mol creatinine were significantly higher in older RS patients. This difference is partly explained by lower urinary creatinine levels in older RS patients, due to their known reduction in muscle mass. Alterations in CSF or urine biogenic amine metabolite concentrations do not appear to represent the primary abnormality in RS, and their measurement cannot be regarded as a reliable means of diagnosis.