Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. Biochim. Biophys. Acta 1832, 1279-1293.McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ. Mis folding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. Biochim Biophys...
A mentally retarded baby is forever. (galactosemia can be prevented with early treatment)SerVaas, Cory
Type I galactosemia is a genetic disorder that is caused by the impairment of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12). Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known how they ...