The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency

ConclusionOur LC-MS/MS assay may be necessary to accurately quantify residual GALT activities below 5%. The data suggest that patients with>1% residual activity are less likely to develop diet-independent long-term complications. However, much larger sample sizes are needed to properly correlate the clinical phenotype in patients with residual enzyme activities between 0.1 and 5%.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research