GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

  title={GALT deficiency causes UDP-hexose deficit in human galactosemic cells.},
  author={Kent Lai and Sharon D Langley and Fatima W Khwaja and E William Schmitt and Louis J. Elsas},
  volume={13 4},
Previously we reported that stable transfection of human UDP-glucose pyrophosphorylase (hUGP2) rescued galactose-1-phosphate uridyltransferase (GALT)-deficient yeast from "galactose toxicity." Here we test in human cell lines the hypothesis that galactose toxicity was caused by excess accumulation of galactose-1-phosphate (Gal-1-P), inhibition of hUGP2, and UDP-hexose deficiency. We found that SV40-transformed fibroblasts derived from a galactosemic patient accumulated Gal-1-P from 1.2+/-0.4 to… CONTINUE READING


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