Table 3.

GALT Genotypes and Biochemical/Clinical Phenotypes

Classic Galactosemia
(Alias 1)
Clinical Variant Galactosemia
(Alias 1)
Biochemical Variant Galactosemia
(Alias 1)
p.[Gln188Arg]+[p. Gln188Arg]
(S135L/S135L) 2
c.[940A>G; c.-16_119delGTCA]
(4bp 5' del + N314D/Q188R) 3
(Δ5.2 kb del/ Δ5.2 kb del) 4

Variant designation that does not conform to current naming conventions


The original identification of the Ser135Leu mutation was exclusively in African Americans; however, it is present on occasion in infants without known African American heritage.


Known as “Duarte variant galactosemia” or the “Duarte D2 variant”


See Table 5, footnote 4.

From: Classic Galactosemia and Clinical Variant Galactosemia

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2015.
Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.

For more information, see the GeneReviews Copyright Notice and Usage Disclaimer.

For questions regarding permissions: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.