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Transferase-Deficiency Galactosemia and the Duarte Variant

Won G. Ng, PhD; JoEllen S. Lee, PhD; George N. Donnell, MD
JAMA. 1987;257(2):187-188. doi:10.1001/jama.1987.03390020053016.
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To the Editor.—  In the June 27, 1986, QUESTIONS AND ANSWERS section,1 Frank K. Thorp stated that "a child heterozygous for galactosemia-Duarte has a greater level of enzyme than the heterozygous parents of a child with galactosemia, who manifest no toxic reaction to dietary galactose or lactose." He further states that restriction of dietary carbohydrates is not necessary and that there is no need to monitor the child's progress on a normal diet. The statement regarding the enzyme values in Duarte galactosemia (D/G) compound heterozygotes is incorrect. The activity for persons who are D/G-compound heterozygotes is lower than that in persons who are galactosemia normal (G/N) heterozygotes, with 20% to 25% of normal activity for D/G compared with 50% of normal activity for G/N.2We cannot agree, at this time, with his recommendation that all persons with galactosemia-Duarte compounds require no dietary treatment. It is appreciated that most,

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