Summary
Acid maltase deficiency is described in non-identical adult twins. The onset of the disease can be traced into late infancy; the clinical picture is one of severe muscular dystrophy; respiratory insuficiency was the cause of death in one case. The autopsy showed the central nervous system, heart and liver to be spared. Glycogen filled vacuoles are found in skin, mesenchymal cells, small nerves and skeletal muscles. The light microscopic study of 9 different muscles showed extremely variable involvement ranging from normal appearance to overt vacuolization. A 6–20% residual acid α-glucosidase activity was found in visceral organs, cultured fibroblasts and in some skeletal muscles. No satisfactory explanation can be given why this generalized acid α-glucosidase deficiency produces a selective involvement of skeletal muscles. If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid α-glucosidase activity and show the presence of an antigenically detectable protein.
From our study and from a similar report in the literature (de Barsy et al., 1975), it appears that a combined approach of light microscopy, electron microscopy and biochemical analysis (determination of acid α-glucosidase) is necessary to make a diagnosis of AMD in adults.
Zusammenfassung
In einem Paar nicht identischer Zwillinge wird der Säuremaltasemangel beschrieben. Beginn der Erkrankung im späten Kleinkindesalter mit Symptomen wie bei einer schweren Muskeldystrophie. In einem Fall Tod durch Ateminsuffizienz. Bei der Autopsie erwiesen sich das zentrale Nervensystem, Herz und Leber als ausgespart. In der Haut, in mesenchymalen Zellen, in kleinen Nerven und in Skeletmuskeln fanden sich Glykogen-gefüllte Vacuolen. Die lichtmikroskopische Untersuchung von 9 verschiedenen Muskeln zeigte extrem unterschiedlichen Befall, der von einem normalen Aspekt bis zu eindrücklicher Vacuolisation reichte. In der Viscera fand sich eine residuale Aktivität von saurer α-Glucosidase in der Größenordnung von 6–20% der Norm, ebenso in kultivierten Fibroblasten und in einzelnen Skeletmuskeln. Es kann nicht befriedigend erklärt werden, warum dieser generalisierte Mangel an α-Glucosidase einen so selektiven Befall des Skeletmuskels ergibt. Verglichen mit der infantilen Form des Säuremaltasemangels (Pompesche Erkrankung) haben unsere Fälle eine viel höhere Restaktivität von saurer α-Glucosidase und zeigen das Vorhandensein eines antigenetisch nachweisbaren Proteins. Aus unserer Untersuchung und aus ähnlichen Berichten in der Literatur ergibt sich, daß eine kombinierte lichtmikroskopische, elektronenmikroskopische und biochemische Untersuchung (mit Bestimmung der sauren α-Glucosidase) für die Diagnosestellung des Mangels an saurer Maltase notwendig ist.
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This work has been supported by grants of the “Fonds voor Geneeskundig Wetenschappelijk Onderzoek” (Nos. 20.323 and 20.057) and by a grant of the U.S. Public Health Service (A.M. 9235).
Dr. Th. de Barsy is a Research Fellow of the “Fonds National de la Recherche Scientifique”.
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Martin, J.J., de Barsy, T. & den Tandt, W.R. Acid maltase deficiency in non-identical adult twins. J. Neurol. 213, 105–118 (1976). https://doi.org/10.1007/BF00313272
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DOI: https://doi.org/10.1007/BF00313272