Table 3.

GALT Genotypes and Biochemical/Clinical Phenotypes

Classic GalactosemiaClinical Variant GalactosemiaBiochemical Variant Galactosemia
p.[Gln188Arg]+[Gln188Arg]
(Q188R/Q188R)		p.[Ser135Leu]+[Ser135Leu]
(S135L/S135L) 1		c.[940A>G;-16_119delGTCA]
(4bp 5' del + N314D/Q188R) 2
p.[Lys285Asn]+[Lys285Asn]
(K285N/K285N)
p.[Leu195Pro]+[Leu195Pro]
(L195P/L195P)
(Δ5.2 kb del/ Δ5.2 kb del) 3
1.

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

2.

Known as "Duarte variant galactosemia" or the "Duarte D2 variant"

3.

See Table 10, footnote 2.

From: Classic Galactosemia and Clinical Variant Galactosemia

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