OMIA:000419-9685 : Glycogen storage disease II in Felis catus (domestic cat)

In other species: dog , taurine cattle , indicine cattle (zebu) , sheep , Japanese quail

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 232300 (trait) , 606800 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Also called Pompe disease, Pompe's disease, acid maltase deficiency, and generalised glycogenesis type II. A lysosomal storage disease in which there is a buildup (storage) of glycogen, due to the lack of the enzyme alpha-glucosidase, whose task is to break down glycogen into its constituent glucose molecules. Characterised by poor growth, incoordination, muscle weakness and eventual recumbency.

Molecular basis: Rakib et al. (2023): "A homozygous missense mutation (GAA:c.1799G>A, p.R600H) was identified as a candidate pathogenic mutation" in "an eight-month-old domestic short-haired cat" . . . "All control samples [100 clinically healthy cats] were homozygous for the wild-type genotype (c.1799G/G), whereas only the cat with PD was homozygous for the mutant genotype (c.1799A/A)".

Clinical features: Rakib et al. (2023): "This is the first report of a cat with PD carrying the same mutation as reported in a case of human classical IOPD [infantile-onset PD]. The clinical and histological findings in this cat with PD were similar to those in humans with IOPD."

Breed: Domestic Shorthair.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GAA glucosidase, alpha; acid Felis catus E1 NC_058381.1 (59327583..59343635) GAA Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1544 Domestic Shorthair Glycogen Storage Disease Type II (Pompe Disease) GAA missense Naturally occurring variant Felis_catus_9.0 E1 g.60946737G>A c.1799G>A p.(R600H) XM_006940651.4; XP_006940713.4 2023 37106898 The OMIA curators thank Osamu Yamato for providing the variant information not included in Rakib et al. (2023); 17 April 2023.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000419-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Rakib, T.M., Islam, M.S., Tanaka, S., Yabuki, A., Pervin, S., Maki, S., Faruq, A.A., Tacharina, M.R., Yamato, O. :
Novel mutation in the feline GAA gene in a cat with glycogen storage disease type II (Pompe disease). Animals (Basel) 13:1336, 2023. Pubmed reference: 37106898. DOI: 10.3390/ani13081336.
2021 Tanaka, S., Suzuki, R., Koyama, H., Machida, N., Yabuki, A., Yamato, O. :
Glycogen storage disease in a young cat with heart failure. J Vet Intern Med , 2021. Pubmed reference: 34939226. DOI: 10.1111/jvim.16339.
2020 Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. :
Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621.
1993 Reuser, A.J.J. :
Molecular biology, therapeutic trials and animal models of lysosomal storage diseases - Type-II glycogenosis as an example. Annales de Biologie Clinique 51:218-219, 1993.
1988 Gilbert, D.A., O'Brien, J.S., O'Brien, S.J. :
Chromosomal mapping of lysosomal enzyme structural genes in the domestic cat Genomics 2:329-336, 1988. Pubmed reference: 3220474.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 14 Jan 2022
  • Changed by Frank Nicholas on 14 Apr 2023