The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced.
A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G).
G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of galactosemia, Duarte, has an unknown incidence.
The proposed Duarte biochemical phenotypes of GALT are as follows : D/N, D/D, and D/G, which have ~75% 50%, and 25% of normal GALT activity, respectively.
In addition, the D allele has isoforms of its enzyme that have more acidic pI than normal.
Mots-clés Pascal : Galactosémie, Mutation, Homme, Génotype, Prévalence, Allèle, Phénotype, Erythrocyte, Epidémiologie, Glucide, Métabolisme pathologie, Maladie héréditaire, Enzymopathie
Mots-clés Pascal anglais : Galactosemia, Mutation, Human, Genotype, Prevalence, Allele, Phenotype, Red blood cell, Epidemiology, Carbohydrate, Metabolic diseases, Genetic disease, Enzymopathy
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0562231
Code Inist : 002B22D03. Création : 09/06/1995.