Abstract
α-1,4 Glucosidase (α-glu) has been shown to be absent in cultivated amniotic fluid cells (AFC), fibroblasts (FIB) and liver (LIV) of patients with Pompe's disease. In contrast, α-glu is present in the kidney (KID) and amniotic fluid (AF) of these patients. In an attempt to explain these differences, properties of α-glu including pH optima, turanose inhibition and heat inactivation were studied in controls (C) and Pompe's (P). The results are as follows:
No α-glu activity could be demonstrated in urine or maternal serum. α-glu in amnion had properties identical with FIB and LIV enzyme. Upon differential centrifugation of the cell-free amniotic fluid, cells and tissues, α-glu was found primarily in the 25,000 × g fraction. These data clearly indicate that the α-glu present in AFC, FIB and LIV have identical properties which are distinctly different from the α-glu in AF and KID. The α-glu in AF differs from that found in KID in its greater heat lability. These studies fail to identify the origin of the α-glu in amniotic fluid. The diagnosis of Pompe's disease in utero must rest on the demonstration of the α-glu deficiency in amniotic fluid cells.
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Salafsky, I., Nadler, H. α-1,4 Glucosidase activity in Pompe's disease. Pediatr Res 5, 422 (1971). https://doi.org/10.1203/00006450-197108000-00212
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DOI: https://doi.org/10.1203/00006450-197108000-00212