The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
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DOI: 10.1016/j.ymgme.2019.01.016
Abstract: BACKGROUND GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally. Lactose… read more here.
Keywords: galt deficiency; galt enzyme; long term; term complications ... See more keywords