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Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina


Generalized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in the GAA gene causing bovine generalized glycogenosis have been identified in two cattle breeds, Brahman and Shorthorn. The objective of this study was to evaluate the prevalence of carriers of the E7 mutation in the GAA gene in Argentinean Brahman-derived herds. A total of 930 Braford, 94 Brangus, and 8 Brahman samples were analyzed. The genotyping was done by polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP). We found that 12.02% (95% CI 12.00–12.04) of the total number of samples received were heterozygous (i.e., carriers) for the E7 mutation, while 12.58% (95% CI 12.56–12.60) of the Braford, 6.38% (95% CI 6.26–6.51) of the Brangus, and 12.50% (95% CI 9.82–15.18) of the Brahman samples were carriers of this loss-of-function allele. Neither breed nor sex were significantly associated to the presence of the mutation. The prevalence informed in this study is similar to the average prevalence reported for Australian Brahmans. The finding of heterozygous animals suggests that breeders and insemination centers should continue screening their herds to minimize the dissemination of this deleterious allele.

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Fig. 1


  • Asociación Braford Argentina, 2008. Aplicaciones prácticas del análisis de ADN. Revista Braford, Bs. As., 24(59), 49–52.

    Google Scholar 

  • Barendse, W., Armitage, S.M., Womack, J.E. and Hetzel, D.J., 1991. Comparison of gene order of 3 bovine chromosomal segments to the human. Cytogenetics and Cell Genetics, 58, 2123.

    Article  Google Scholar 

  • Cámara Argentina de Biotecnología de la Reproducción e Inseminación Artificial (Argentinian Chamber of Biotechnology of Reproduction and Artificial Insemination). Accessed 4 July 2017

  • Cítek, J., Rehout, V., Vecerek, L. and Hájková, J., 2007. Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. Journal of Veterinary Medicine, 54, 257–259.

    Article  Google Scholar 

  • Clop, A., Marcq, F., Takeda, H., Pirottin, D., Tordoir, X., Bibé, B., Bouix, J., Caiment, F., Elsen, J.M., Eychenne, F., Larzul, C., Laville, E., Meish, F., Milenkovic, D., Tobin, J., Charlier, C. and Georges, M., 2006. A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. Nature Genetics, 38, 813–818.

    CAS  Article  Google Scholar 

  • Dennis, J.A. and Healy, P.J., 2001. Genotyping Shorthon cattle for generalized glycogenosis. Australian Veterinary Journal, 79, 773–775.

    CAS  Article  Google Scholar 

  • Dennis, J.A., Moran, C. and Healy, P.J., 2000. The bovine α-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis. Mammalian Genome, 11, 206–212.

    CAS  Article  Google Scholar 

  • Dennis, J.A., Healy, P.J. and Reichmann, K.G., 2002. Genotyping Brahman cattle for generalized glycogenosis. Australian Veterinary Journal, 80, 286–291.

    CAS  Article  Google Scholar 

  • Grobet, L., Martin, L.J., Poncelet, D., Pirottin, D., Brouwers, B., Riquet, J., Schoeberlein, A., Dunner, S., Ménissier, F., Massabanda, J., Fries, R., Hanset, R. and Georges, M., 1997. A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. Nature Genetics, 17, 71–74.

    CAS  Article  Google Scholar 

  • Jolly, R.D., 2002. Screening for genetic diseases in cattle. Australian Veterinary Journal, 80, 284–285.

    CAS  Article  Google Scholar 

  • Lyons, R.E., Johnston, D.J., McGowan, M.R., Laing, A., Robinson, B., Owen, H., Hill, B.D. and Burns, B.M., 2017. E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe’s disease in Droughtmaster cattle. Australian Veterinary Journal, 95, 138–142.

    CAS  Article  Google Scholar 

  • Manktelow, B.W. and Hartley, W.J., 1975. Generalized glycogen storage disease in sheep. Journal of Comparative Pathology, 85, 139–145.

    CAS  Article  Google Scholar 

  • McPherron, A. and Lee, S.J., 1997. Double muscling in cattle due to mutations in the myostatin gene. Proceedings of the National Academy of Sciences of the United States of America, 94, 12457–12461.

    CAS  Article  Google Scholar 

  • Meyers, S.N., McDaneld, T.C., Swist, S.L., Marron, B.M., Steffen, D.J., O'Toole, D., O'Connell, J.R., Beever, J.E., Sonstegard, T.S. and Smith, T.P.L., 2010. A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. BMC Genomics, 11, 337.

    Article  Google Scholar 

  • Mikawa, S., Morozumi, T., Shimanuki, S.I., Hayashi, T., Uenishi, H., Domukai, M., Okumura, N. and Awata, T., 2007. Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan nuclear receptor, germ cell nuclear factor (NR6A1). Genome Research, 17, 586–593.

    CAS  Article  Google Scholar 

  • Mostafa, I.E., 1970. A case of glycogenic cardiomegaly in a dog. Acta Veterinaria Scandinavica, 11, 197–208.

    CAS  PubMed  Google Scholar 

  • O’Sullivan, B.M., Healy, P.J., Fraser, I.R., Nieper, R.E., Whittler, R.J. and Sewell, C.A., 1981. Generalized glycogenosis in Brahman cattle. Australian Veterinary Journal, 57, 227–229.

    Article  Google Scholar 

  • Pompe, J.C., 1932. Over idiopatische hypertrophie van het hart. Nederlands Tijdschrift Geneeskunde, 76, 304–311.

    Google Scholar 

  • Reichmann, K.G., Twist, J.O. and Thistlethwaite, E.J., 1993. Clinical, diagnostic and biochemical features of generalized glycogenosis type II in Brahman cattle. Australian Veterinary Journal, 70, 405–408.

    CAS  Article  Google Scholar 

  • Reichmann, K.G., Drinkwater, R.D., Hetzel, D.J.S., Hielscher, R.W. and Healy, P.J., 1994. Generalised glycogenosis (Pompe’s disease) in Brahman cattle. A review of the syndrome and its control in Australia. Proceedings of the 5th World Congress on Genetic Applied to Livestock Production, 21, 165–168.

    Google Scholar 

  • Richards, R.B., Edwards, J.R., Cook, R.D. and White, R.R., 1977. Bovine generalized glycogenosis. Neuropathology and Applied Neurobiology, 3, 45–56.

    Article  Google Scholar 

  • Sandström, B., Westman, J. and Ockerman, P.A., 1969. Glycogenosis of the central nervous system in the cat. Acta Neuropathologica, 14, 194–200.

    Article  Google Scholar 

  • Tammen, I., Larsson, U., Bergknut, N., Barendse, W., Moran, C. and Dennis, J.A., 2000. Physical and linkage mapping of the bovine acidic α-glucosidase gene to chromosome 19. Animal Genetics, 31, 285–286.

    CAS  Article  Google Scholar 

  • The Bovine Genome Sequencing and Analysis Consortium, 2009. The genome sequence of taurine cattle: A window to ruminant biology and evolution. Science, 324, 522–528.

    Article  Google Scholar 

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We thank the Argentinean Braford Association, and private breeders, seed stock companies, and insemination centers from Argentina for trusting our work and for sending their samples to us for analysis.


This work was supported by the Instituto Nacional de Tecnología Agropecuaria (INTA—grant PNBIO1131033) and by the owners of the animals analyzed, who paid for the service of carrier status diagnosis.

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Correspondence to María Eugenia Caffaro or María Agustina Raschia.

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Caffaro, M.E., Raschia, M.A., Amadio, A.F. et al. Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina. Trop Anim Health Prod 52, 483–488 (2020).

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  • Glycogenesis type II
  • Lysosomal acidic 1,4-α-glucosidase
  • E7 mutation
  • Carrier status