[Cataract due to galactokinase deficiency in a premature infant].
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.
D002386:Cataract / Q000209:etiology*; D005260:Female; D005690:Galactose / Q000652:urine; D005693:Galactosemias / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000209:etiology*; D010770:Phosphotransferases / Q000172:deficiency*
D010770:Phosphotransferases; D005690:Galactose
Cataracte par déficit en galactokinase chez un prématuré