Abstract
Patients with galactosemia have a deficiency of the enzyme galactose-1-phosphate uridylyl transferase (GALT) in the Leloir pathway. In vitro, normal cells can grow in media containing galactose as the sole sugar source while in cultures derived from galactosemia patients the majority of cells are unable to survive. In 2 lines of SV-40 virus transformed human fibroblasts derived from galactosemic patients, surviving populations of cells were isolated which were able to proliferate in galactose. Some of these cell populations appeared to be revertants with a measurable GALT activity while others had undetectable GALT activity. The latter group were able to grow in sugar free media. Cloned revertant lines were characterized by heat stability studies and starch gel electrophoresis. Study of these revertants provides additional insight into the molecular effects of mutation at the GALT locus.
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