Premium
HOMOVANILLIC ACID AND 5‐HYDROXYINDOLEACETIC ACID IN CEREBROSPINAL FLUID OF A CHILD WITH FAMILIAL DYSAUTONOMIA
Author(s) -
ANDERSON H.,
HAGNE I.,
ROOS B. E.
Publication year - 1973
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1973.tb08063.x
Subject(s) - familial dysautonomia , homovanillic acid , medicine , 5 hydroxyindoleacetic acid , probenecid , dysautonomia , cerebrospinal fluid , pathogenesis , disease , pediatrics , endocrinology , serotonin , receptor
Summary A case of familial dysautonomia with a high level of HVA and a normal level of 5‐HIAA in CSF is described. After probenecid loading test the increase in HVA was only slight, while the increase in 5‐HIAA was normal. These findings suggest an explanation for the pathogenesis of the disease.