Some inferences from galactokinase deficiency

[摘要] The observations made by Olambiwonnu et al. in this issue on twins with galactokinase deficiency raise several issues of practical importance. The first point, which is not new but cannot be too often reemphasized, is the necessity to use a chemical reducing method, such as the Clinitest® tablet, for routine screening of urines for sugars. This, and the other copper-reducing methods, will detect all reducing sugars, whereas the methods utilizing glucose oxidase, such as Testape® or the Labstix,® will detect only glucose. If only the latter are used all melliturias except glucosuria will be missed. This is a matter of very acute practical concern in the neonatal period and early infancy when unsuspected cases of galactokinase deficiency, galactosemia, fructose intolerance and other melliturias should be detected for the best ultimate result.

[学科分类] 儿科学