HYPERGALACTOSEMIA AND GALACTOSURIA DUE TO GALACTOKINASE DEFICIENCY IN A NEWBORN

Author:

Thalhammer O.1,Gitzelmann R.1,Pantlitschko M.1

Affiliation:

1. Departments of Pediatrics, University, of Vienna and University of Zürich

Abstract

The detection in a screening program of a newborn infant with galactokinase deficiency is reported. Hypergalactosemia, galactosuria, and mild hepatosplenomegaly were the symptoms. Hypergalactosemia after milk intake was shown to be of rather short duration. It is recommended that blood samples for screening procedures be taken no sooner than 1 hour after the first milk feeding of the day, or, better still, 1 to 2 hours after the second milk feeding of the day.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening;Archives of Medical Research;2011-10

2. Inborn Errors of Carbohydrate Metabolism;Principles of Perinatal-Neonatal Metabolism;1991

3. Cataract and Metabolic Disease;Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria;1990

4. Newborn Screening for Inherited Disorders of Galactose Metabolism;Neonatal Screening for Inborn Errors of Metabolism;1980

5. Galactose metabolism, hereditary defects and their clinical significance;Inherited Disorders of Carbohydrate Metabolism;1980

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