Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities.

Abstract:

:Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients. A rapid decline in control spinal fluid HVA and 5-HIAA occurs over the first 3 years of life (50 and 60%, respectively), and a more gradual decline persists throughout adolescence. The Lesch-Nyhan subjects have similar age-related changes in their spinal fluid neurotransmitter levels. Sequential 5-HIAA determinations from the four Lesch-Nyhan boys fall within the control range. The Lesch-Nyhan HVA levels are lower than the mean value for the age-matched control group in 18 of 19 samples. Ten of 19 determinations fell below the control range. Our findings provide evidence for altered CNS dopamine metabolism in the Lesch-Nyhan syndrome.

journal_name

Neurology

journal_title

Neurology

authors

Silverstein FS,Johnston MV,Hutchinson RJ,Edwards NL

doi

10.1212/wnl.35.6.907

subject

Has Abstract

pub_date

1985-06-01 00:00:00

pages

907-11

issue

6

eissn

0028-3878

issn

1526-632X

journal_volume

35

pub_type

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