Article
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.
Molecular genetics and metabolism - 1 Feb 2011
Goldstein Nurit, Cohen Yoram, Pode-Shakked Ben, Sigalov Ekaterina, Vilensky Bela, Peleg Leah, Anikster Yair
Abstract excerpt
Classic galactosemia is an autosomal recessive disorder of galactose metabolism manifesting in the first weeks of life following exposure to a milk-based diet. Despite the benefit of avoidance of lactose, many patients suffer from long-term complications including neurological deficits and ovarian failure. To date, over 230 mutations have been described in the GALT gene resulting in galactosemia. Recently, an...
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