- David J. TimsonAffiliated withSchool of Biological Sciences, Queen’s University Belfast
- , Richard J. ReeceAffiliated withFaculty of Life Sciences, University of Manchester
- , James B. ThodenAffiliated withDepartment of Biochemistry, University of Wisconsin
- , Hazel M. HoldenAffiliated withDepartment of Biochemistry, University of Wisconsin
Galactosemia type II; Galk deficiency
Definition and Characteristics
Autosomal recessive inborn error in galactose metabolism leading to hypergalactosemia and cataract formation.
Overall estimates of homozygotes range from 1:100,000 to 1:1,000,000. Some mutations, however, have higher frequencies in particular populations such as the A198V mutation in Japanese, Korean and Chinese populations  and the P28T mutation in Roma and Bosnian populations [2,3].
GALK1 coding for galactokinase, localized on chromosome 17q24 .
Molecular and Systemic Pathophysiology
Galactokinase functions in normal galactose metabolism by catalyzing the MgATP-dependent phosphorylation of the C-1 hydroxyl group of α-d-galactose. Approximately 25 mutations (including base substitutions, base deletions, and larger deletions) have been reported in human galactokinase, which give rise to Type II galactosemi ...
Reference Work Entry Metrics
- Galactokinase Deficiency
- Reference Work Title
- Encyclopedia of Molecular Mechanisms of Disease
- pp 679-680
- Print ISBN
- Online ISBN
- Springer Berlin Heidelberg
- Copyright Holder
- Springer-Verlag GmbH Berlin Heidelberg
- Additional Links
- Industry Sectors
- eBook Packages
- Editor Affiliations
- 1. Institute of Physiology, University of Tuebingen
- Author Affiliations
- 1. School of Biological Sciences, Queen’s University Belfast, Medical Biology Centre, Belfast, UK
- 2. Faculty of Life Sciences, University of Manchester, Manchester, UK
- 3. Department of Biochemistry, University of Wisconsin, Madison, WI, USA
To view the rest of this content please follow the download PDF link above.