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Glycogenosis Type III in the Dog
Glykogenose type III hos hund
Acta Veterinaria Scandinavica volume 17, pages 210–222 (1976)
Abstract
Enzyme and glycogen structure studies have been carried out on tissues of a glycogenotic dog, the clinical and pathological characteristics of which are reported in the accompanying paper. Liver glucose-6-phosphatase, leukocyte and liver acid maltase, and liver and skeletal muscle glycogen Phosphorylase all appeared largely unaffected. The activity of the muscle and liver debranching enzyme (amylo-l,6-glucosidase), determined by two independent assay methods, was, however, reduced to between 0 and 7 % of normal activity. Glycogen structure studies with Phosphorylase or iodine spectra revealed that the abnormally large amounts of glycogen found in liver and skeletal muscle had abnormally short branches, as would be expected for a deficiency of debranching enzyme. It is thus clear that the dog had suffered from the equivalent of Cori's disease (limit dextrinosis, type III glycogen storage disease). Preliminary data indicate that it may be possible to identify heterozygotes based on a study of the debranching enzyme of leukocytes.
Sammendrag
Enzym- og glykogenstudier er utført med vev fra en glykogenotisk hund, hvis kliniske og patologiske karakteristika er rapportert av Rafiquzzaman et al. (1976). Glukose-6-fosfatase fra lever, sur maltase fra leukocytter og lever, og glykogenfosforylase fra lever og skjelettmuskel var ikke nevneverdig berørt. Aktiviteten for avgreningsenzymet (amylo-l,6-glukosidase) i muskel og lever, bestemt med to uavhengige metoder, var imidlertid redusert til mellom 0 og 7 % av normal aktivitet.
Glykogenstrukturundersøkelser med fosforylase eller jodspektra viste at de unormalt store glykogenmengder i lever og muskel hadde unormalt korte grener, slik en skulle vente ved et lavt nivå av avgreningsenzymet. Det er således klart at hunden led av en sykdom tilsvarende Gori’s sykdom (“limit dextrinosis”, glykogenavleiringssykdom type III).
Preliminære data antyder at det skulle være mulig å identifisere heterozygoter, basert på undersøkelse af avgreningsenzymet i leukocytter.
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Čeh, L., Hauge, J.G., Svenkemd, R. et al. Glycogenosis Type III in the Dog. Acta Vet Scand 17, 210–222 (1976). https://doi.org/10.1186/BF03547929
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DOI: https://doi.org/10.1186/BF03547929