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[Cataract due to galactokinase deficiency in a premature infant]

Authors :
J, Colin
M, Voyer
D, Thomas
F, Schapira
P, Satge
Source :
Archives francaises de pediatrie. 33(1)
Publication Year :
1976

Abstract

Report of a case of galactosemia due to galactokinase deficiency. The author recalls the clinical (opacity of the lens) and biological features (important galactosuria, gallactiloluria, normal aminoaciduria, minimal hyperglycemia following galactose load). Since symptoms of increased intracranial pressure were present in this case, as in another one previously described, the commonly accepted statement that cataract is the only lesion in galactokinase deficiency must be reconsidered.

Details

Language :
French
ISSN :
00039764
Volume :
33
Issue :
1
Database :
OpenAIRE
Journal :
Archives francaises de pediatrie
Accession number :
edsair.pmid..........3cb9b2c2aa595ec2d39f13a64a0b1f39