Amylopectinosis, Andersen Glycogenosis, Brancher Deficiency, Branching Enzyme Deficiency, GBE1, Glycogen Storage Disease IV, GSDIV
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Elevated body temperature, weakness, signs associated with heart disease, ataxia and death.
4 years
Autosomal recessive
Skeletal muscle, heart, central nervous system degeneration, abnormal glycogen accumulation in tissues, and elevated body temperature. Cats with this disease have a shortened life expectancy and generally live about four years.
GBE1 and 334bp ins 5' - 6.2kb del
2-2 (Homozygous Disease Variant)
Unhealthy (Affected)
Homozygous Affecteds (2-2) are expected to develop signs consistent with Glycogenosis (GSD) Type IV and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous)
Healthy (Carrier)
Heterozygous Carriers (1-2) are not expected to develop signs of Glycogenosis (GSD) Type IV but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal)
Healthy (Normal, Clear)
Homozygous Normals (1-1) are not expected to develop signs of Glycogenosis (GSD) Type IV and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
Fyfe JC, Kurzhals RL, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF, Henthorn PS. A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol Genet Metab. 2007 Apr;90(4):383-92. doi: 10.1016/j.ymgme.2006.12.003. Epub 2007 Jan 25. Erratum in: Mol Genet Metab. 2011 Nov;104(3):423. PMID: 17257876; PMCID: PMC2063609. Fyfe JC, Giger U, Van Winkle TJ, Haskins ME, Steinberg SA, Wang P, Patterson DF. Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats. Pediatr Res. 1992 Dec;32(6):719-25. doi: 10.1203/00006450-199212000-00020. PMID: 1337588.