Abstract

Generalised glycogenosis (glycogen storage disease type II; Pompe's disease) is an autosomal recessive disease that has been recorded in humans (Pompe, 1932) and various animal species including Beef Shorthorn (Jolly et at, 1977) and Brahman (O'Sullivan et at, 1981) cattle in Australia. This disease is caused by a deficiency of the enzyme acid a glucosidase (AAG) which results in an excessive accumulation of glycogen within lysosomes in many tissues.
In man, glycogenosis is expressed as several different clinical syndromes of varying severity. These syndromes are associated with variation in residual AAG activity which, in turn, reflects molecular heterogeneity within the AAG gene (McKusick, 1990). In contrast, the majority of Brahman cases reported in Australia presented with a similar clinical disease (Reichmann et at, 1993). This is consistent with the hypothesis that the disease has arisen through dissemination of a mutation via a founder effect in a breed derived from a narrow genetic base.

K. G Reichmann, R. D Drinkwater, D. JS Hetzel, R. W Hielscher, P. J Healy

Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume 21. Gene mapping; polymorphisms; disease genetic markers; marker assisted selection; gene expression; transgenes; non-convention, , 165–168, 1994
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