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Galactose-1-phosphate uridylyltransferase galactosemia
Galactose-1-phosphate uridylyltransferase galactosemia (or type 1) is the most common type of galactosemia. It is caused by a deficiency in galactose-1-phosphate uridylyltransferase.
Additional recommended knowledge
There are two variants of the GALT gene responsible for galactosemia.
The severity of the symptoms is dependent on a number of factors, most importantly the amount of lactose in the individual's diet. It is also possible to have one each of the classic and Duarte genes, in which case GALT activity is intermediate.
Categories: Metabolic disorders | Inborn errors of metabolism | Genetic disorders
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Galactose-1-phosphate_uridylyltransferase_galactosemia". A list of authors is available in Wikipedia.|