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Biochemical diagnosis of glycogenosis type II (acid maltase deficiency)

Pilz, H.; Goebel, H.H.; Stefan, H.; Seidel, D.; Kohlschütter, A.

Journal of Clinical Chemistry and Clinical Biochemistry 15(12): 705-708

1977

ISSN/ISBN: 0340-076X
PMID: 342670
Document Number: 115661
Body fluids and organ tissues (obtained at biopsy and/or autopsy) of controls and 2 patients with type-II glycogenosis showed different enzyme patterns of acid and neutral .alpha.-1,4-glucosidase (maltase). The normally predominant acid .alpha.-glucosidase was markedly deficient in skeletal muscle, cardiac muscle, liver and cerebral cortex of a patient with the infantile type of the disorder (Pompe's disease); activity of the neutral .alpha.-1,4-glucosidase was not decreased. In kidney and urine (the latter from a patient with adult-onset type-II glycogenosis) a marked and a partial diminution of the acid and neutral .alpha.-1,4-glucosidase, respectively, were found. Normal individuals also exhibit an approximately equal activity of both enzyme components. In leukocytes of the patient with Pompe's disease there was only a slight decrease of the normally low acid .alpha.-glucosidase activity; the amount of the neutral enzyme was unchanged. For diagnostic screening the determination of urinary .alpha.-glucosidase is useful. A final biochemical characterization of the metabolic disorder can only be performed by assay of acid and neutral .alpha.-glucosidase in muscle and/or liver tissue obtained by biopsy.

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