OMIA:000402-9685 : Gangliosidosis, GM1 in Felis catus (domestic cat)

In other species: emu , dog , taurine cattle , sheep

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Species-specific name: beta-galactosidase-1 deficiency

Molecular basis: Martin et al. (2008) reported the causal mutation as "a G to C substitution at position 1448 of the open reading frame [of GLB1], resulting in an amino acid substitution at arginine 483, known to cause G(M1) gangliosidosis in humans". Uddin et al. (2013) identified the same mutation in two affected cats from Bangladesh, indicating that this mutation is widespread. Ueno et al. (2016) reported an affected Japanese domestic cat that did not have the only known likely causal variant, namely c.1448G>C (above), "suggesting that the cat was affected with a new variant of the feline disease".

Breeds: Japanese domestic, Korat (Cat) (VBO_0100143), Siamese (Cat) (VBO_0100221).
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
GLB1 galactosidase, beta 1 Felis catus C2 NC_058376.1 (156398990..156279158) GLB1 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
126 Korat (Cat) Siamese (Cat) Gangliosidosis, GM1 GLB1 missense Naturally occurring variant Felis_catus_9.0 C2 g.158932167C>G c.1448G>C p.(R483P) rs5334475143 2008 18353697 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000402-9685: 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 Hosseini, K., Fallahi, J., Tabei, S.M.B., Razban, V. :
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies. Cell Biochem Funct , 2023. Pubmed reference: 38018878. DOI: 10.1002/cbf.3887.
Kell, P., Sidhu, R., Qian, M., Mishra, S., Nicoli, E.R., D'Souza, P., Tifft, C.J., Gross, A.L., Gray-Edwards, H.L., Martin, D.R., Sena-Esteves, M., Dietzen, D.J., Singh, M., Luo, J., Schaffer, J.E., Ory, D.S., Jiang, X. :
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis. EBioMedicine 92:104627, 2023. Pubmed reference: 37267847. DOI: 10.1016/j.ebiom.2023.104627.
2022 Gross, A.L., Gray-Edwards, H.L., Bebout, C.N., Ta, N.L., Nielsen, K., Brunson, B.L., Mercado, K.R.L., Osterhoudt, D.E., Batista, A.R., Maitland, S., Seyfried, T.N., Sena-Esteves, M., Martin, D.R. :
Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis. Brain 145:655-669, 2022. Pubmed reference: 34410345. DOI: 10.1093/brain/awab309.
2016 Kohyama, M., Yabuki, A., Ochiai, K., Nakamoto, Y., Uchida, K., Hasegawa, D., Takahashi, K., Kawaguchi, H., Tsuboi, M., Yamato, O. :
In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016. Pubmed reference: 27036194. DOI: 10.1186/s12917-016-0691-y.
Ueno, H., Yamato, O., Sugiura, T., Kohyama, M., Yabuki, A., Miyoshi, K., Matsuda, K., Uchide, T. :
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan. J Vet Med Sci 78:91-5, 2016. Pubmed reference: 26234889. DOI: 10.1292/jvms.15-0281.
2014 McCurdy, V.J., Johnson, A.K., Gray-Edwards, H.L., Randle, A.N., Brunson, B.L., Morrison, N.E., Salibi, N., Johnson, J.A., Hwang, M., Beyers, R.J., Leroy, S.G., Maitland, S., Denney, T.S., Cox, N.R., Baker, H.J., Sena-Esteves, M., Martin, D.R. :
Sustained normalization of neurological disease after intracranial gene therapy in a feline model. Sci Transl Med 6:231ra48, 2014. Pubmed reference: 24718858. DOI: 10.1126/scitranslmed.3007733.
2013 Hasegawa, D., Tamura, S., Nakamoto, Y., Matsuki, N., Takahashi, K., Fujita, M., Uchida, K., Yamato, O. :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013. Pubmed reference: 24386203. DOI: 10.1371/journal.pone.0083455.
Uddin, M.M., Hossain, M.A., Rahman, M.M., Chowdhury, M.A., Tanimoto, T., Yabuki, A., Mizukami, K., Chang, H.S., Yamato, O. :
Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. J Vet Med Sci 75:395-7, 2013. Pubmed reference: 23123943.
2012 Rigat, B.A., Tropak, M.B., Buttner, J., Crushell, E., Benedict, D., Callahan, J.W., Martin, D.R., Mahuran, D.J. :
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy. Mol Genet Metab 107:203-12, 2012. Pubmed reference: 22784478. DOI: 10.1016/j.ymgme.2012.06.007.
Sewell, A.C., Haskins, M.E., Giger, U. :
Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol 41:548-57, 2012. Pubmed reference: 23121383. DOI: 10.1111/j.1939-165x.2012.00485.x.
Uddin, M.M., Tanimoto, T., Yabuki, A., Kotani, T., Kuwamura, M., Chang, H.S., Yamato, O. :
Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. J Feline Med Surg 14:900-2, 2012. Pubmed reference: 22772479. DOI: 10.1177/1098612X12454120.
2009 Kawasaki, Y., Nagatani, I., Terashima, Y., Koike, H., Miyoshi, N., Oishi, A. :
Assessment of neurological function in three cats with homozygous or heterozygous GM1-Gangliosidosis by brainstem auditory evoked potential. [Japanese] Journal of the Japan Veterinary Medical Association 62:148-154, 2009. DOI: 10.12935/jvma.62.148.
Kawasaki, Y., Nagatani, I., Terashima, Y., Oishi, A. :
Assessment of neuological function in three cats with homozygous or heterozygous GM1-gangliosidosis by brainstem auditory evoked potential. Journal of the Japan Veterinary Medical Association 62:148-154, 2009. DOI: 10.12935/jvma.62.148.
2008 Martin, DR., Rigat, BA., Foureman, P., Varadarajan, GS., Hwang, M., Krum, BK., Smith, BF., Callahan, JW., Mahuran, DJ., Baker, HJ. :
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab 94:212-21, 2008. Pubmed reference: 18353697. DOI: 10.1016/j.ymgme.2008.02.004.
Samoylova, TI., Martin, DR., Morrison, NE., Hwang, M., Cochran, AM., Samoylov, AM., Baker, HJ., Cox, NR. :
Generation and characterization of recombinant feline beta-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis. Metabolic Brain Disease 23:161-73, 2008. Pubmed reference: 18421424. DOI: 10.1007/s11011-008-9086-5.
2003 Martin DR, Haack K, Krum BK, Hathcock TL, Cox NR, Kafri T, Niemeyer GP, Baker HJ :
Mesenchymal stem cell and lentiviral gene therapy for feline G(M1) gangliosidosis (abstract only) Molecular Therapy 7:651, 2003.
1999 Cox, N.R., Morrison, N.E., Sartin, J.L., Buonomo, F.C., Steele, B., Baker, H.J. :
Alterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis Endocrinology 140:5698-5704, 1999. Pubmed reference: 10579334.
1998 Cox, N.R., Ewald, S.J., Morrison, N.E., Gentry, A.S., Schuler, M., Baker, H.J. :
Thymic alterations in feline GM1 gangliosidosis Veterinary Immunology & Immunopathology 63:335-353, 1998.
Demaria, R., Divari, S., Bo, S., Sonnino, S., Lotti, D., Capucchio, M.T., Castagnaro, M. :
Beta-glactosidase deficiency in a Korat cat - a new form of feline G(M1)-gangliodosis Acta Neuropathologica 96:307-314, 1998. Pubmed reference: 9754965.
1997 Steiss, J.E., Baker, H.J., Braund, K.G., Cox, N.R., Wright, J.C. :
Profile of electrodiagnostic abnormalities in cats with GM1 gangliosidosis American Journal of Veterinary Research 58:706-709, 1997. Pubmed reference: 9215443.
1994 Dial, S.M., Mitchell, T.W., Lecouteur, R.A., Wenger, D.A., Roberts, S.M., Gasper, P.W., Thrall, M.A. :
GM(1)-Gangliosidosis (Type-II) in 3 Cats Journal of the American Animal Hospital Association 30:355-359, 1994.
1991 Claro, E., Wallace, M.A., Fain, J.N., Nair, B.G., Patel, T.B., Shanker, G., Baker, H.J. :
Altered Phosphoinositide-Specific Phospholipase-C and Adenylyl Cyclase in Brain Cortical Membranes of Cats with GM1 and GM2 Gangliosidosis Molecular Brain Research 11:265-271, 1991. Pubmed reference: 1661824.
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.
Nowakowski, RW., Thompson, JN., Baker, HJ. :
Diagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells. Invest Ophthalmol Vis Sci 29:487-90, 1988. Pubmed reference: 3125124.
1987 Castagnaro, M., Alroy, J., Ucci, A.A., Glew, R.H. :
Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases. Virchows Arch B Cell Pathol Incl Mol Pathol 54:16-26, 1987. Pubmed reference: 2892300. DOI: 10.1007/BF02899193.
Koenig, ML., Jope, RS., Baker, HJ., Lally, KM. :
Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis. Brain Res 424:169-76, 1987. Pubmed reference: 3121133.
1986 Barker, C.G., Blakemore, W.F., Dell, A., Palmer, A.C., Tiller, P.R., Winchester, B.G. :
GM1 gangliosidosis (type 1) in a cat. Biochem J 235:151-8, 1986. Pubmed reference: 3091002. DOI: 10.1042/bj2350151.
Jope, RS., Baker, HJ., Connor, DJ. :
Increased acetylcholine synthesis and release in brains of cats with GM1 gangliosidosis. J Neurochem 46:1567-72, 1986. Pubmed reference: 3083048.
1985 Baker, HJ., Jope, RS. :
Increased metabolism of acetylcholine in brain of cats with Gm1 gangliosidosis. Brain Res 343:363-5, 1985. Pubmed reference: 3931858.
1983 Byrne, M.C., Ledeen, R.W. :
Regional variation of brain gangliosides in feline GM1 gangliosidosis. Exp Neurol 81:210-25, 1983. Pubmed reference: 6407859. DOI: 10.1016/0014-4886(83)90169-3.
1982 Hanna, R.B., Pappas, G.D., Purpura, D.P. :
Freeze-fracture study of membranous cytoplasmic bodies of cortical neurons in feline GM1-ganglioside storage disease. Brain Res 252:172-6, 1982. Pubmed reference: 6293652. DOI: 10.1016/0006-8993(82)90993-3.
Singer, HS., Coyle, JT., Weaver, DL., Kawamura, N., Baker, HJ. :
Neurotransmitter chemistry in feline GM1 gangliosidosis: a model for human ganglioside storage disease. Ann Neurol 12:37-41, 1982. Pubmed reference: 6126152. DOI: 10.1002/ana.410120107.
1981 Barnes, I.C., Kelly, D.F., Pennock, C.A., Randell, J.A. :
Hepatic beta galactosidase and feline GMI gangliosidosis. Neuropathol Appl Neurobiol 7:463-76, 1981. Pubmed reference: 6799849. DOI: 10.1111/j.1365-2990.1981.tb00246.x.
1978 Anderson, J.K., Mole, J.E., Baker, H.J. :
Purification and characterization of GM1 ganglioside beta-galactosidase from normal feline liver and brain. Biochemistry 17:467-73, 1978. Pubmed reference: 413573. DOI: 10.1021/bi00596a015.
Holmes, E.W., O'Brien, J.S. :
Feline GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase. Am J Hum Genet 30:505-15, 1978. Pubmed reference: 83795.
Holmes, E.W., O'Brien, J.S. :
Hepatic storage of oligosaccharides and glycolipids in a cat affected with GM1 gangliosidosis. Biochem J 175:945-53, 1978. Pubmed reference: 217359. DOI: 10.1042/bj1750945.
Purpura, DP., Baker, HJ. :
Meganeurites and other aberrant processes of neurons in feline GM1-gangliosidosis: a Golgi study. Brain Res 143:13-26, 1978. Pubmed reference: 415798.
Purpura, DP., Pappas, GD., Baker, HJ. :
Fine structure of meganeurites and secondary growth processes in feline GM1-gangliosidosis. Brain Res 143:1-12, 1978. Pubmed reference: 415797.
Reynolds, GC., Baker, HJ., Reynolds, RH. :
Enzyme replacement using liposome carriers in feline Gm1 gangliosidosis fibroblasts. Nature 275:754-5, 1978. Pubmed reference: 100709.
1977 Mochizuki, H., Koya, T. :
[GMI gangliosidosis in a Japanese cat]. Jikken Dobutsu 26:281-2, 1977. Pubmed reference: 409608.
Murray, J.A., Blakemore, W.F., Barnett, K.C. :
Ocular lesions in cats with GM1-gangliosidosis with visceral involvement. J Small Anim Pract 18:1-10, 1977. Pubmed reference: 404469. DOI: 10.1111/j.1748-5827.1977.tb05818.x.
Purpura, KP., Baker, HJ. :
Neurite induction in mature cortical neurones in feline GM1-ganglioside storage disease. Nature 266:553-4, 1977. Pubmed reference: 404568.
1974 Baker, HJ., Lindsey, JR. :
Animal model: feline GM1 gangliosidosis. Am J Pathol 74:649-52, 1974. Pubmed reference: 4856037.
1973 Farrell, DF., Baker, HJ., Herndon, RM., Lindsey, JR., McKhann, GM. :
Feline GM 1 gangliosidosis: biochemical and ultrastructural comparisons with the disease in man. J Neuropathol Exp Neurol 32:1-18, 1973. Pubmed reference: 4119597.
1972 Blakemore, W.F. :
GM-1 gangliosidosis in a cat. J Comp Pathol 82:179-85, 1972. Pubmed reference: 5040871. DOI: 10.1016/0021-9975(72)90061-8.
1971 Baker, HJ., Lindsey, JR., McKhann, GM., Farrell, DF. :
Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science 174:838-9, 1971. Pubmed reference: 5120520.

Edit History

  • Created by Frank Nicholas on 13 Jul 2009
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 16 Apr 2013
  • Changed by Frank Nicholas on 09 Nov 2016
  • Changed by Imke Tammen2 on 17 Sep 2022
  • Changed by Imke Tammen2 on 04 Jun 2023