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Case Reports
. 1978;1(3):85-8.
doi: 10.1007/BF01805678.

A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease)

K Blau
Case Reports

A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease)

K Blau. J Inherit Metab Dis. 1978.

Abstract

Prenatal diagnosis of type 2 glycogenosis (Pompe's disease) has been done on cultured amniotic fluid cells, using a semi-automated fluorimetric kinetic assay for alpha-D-glucosidase with 4-methylumbelliferyl-alpha-D-glucoside as substrate. The activity of the enzyme was related to that of beta-D-galactosidase, and found to be absent in cells from an affected fetus. The diagnosis was confirmed in fetal liver, where the same assay was used to show absence of alpha-D-glucosidase activity with normal beta-D-galactosidase activity, and where increased glycogen deposition was demonstrated histologically. This type of assay is generally applicable to lysosomal enzymes, and to other fluorigenic enzyme reactions.

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