Abstract
Using the assay system which measures the incorporation of U-C 14 glucose into new branch points in the glycogen molecule, it has been possible to show the presence of amylo-1,6-glucosidase in human fibroblasts derived from skin biopsies and in cultivated amniotic fluid cells. The marked decrease of this enzyme in cultured fibroblasts from a child with Type III glycogen storage disease indicate the usefulness of this technique not only in establishing the diagnosis among patients, but opens up the possibility of prenatal detection of debrancher enzyme deficiency.
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