Glycogenosis (GSD) Type IV

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Related Terms: Amylopectinosis, Andersen Glycogenosis, Brancher Deficiency, Branching Enzyme Deficiency, GBE1, Glycogen Storage Disease IV, GSDIV

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

5 months of age

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Sample Processing

Cost: $75.00

Species and Breeds
Feline - Norwegian Forest Cat

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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

Explanation of Results
Genotype Phenotype Interpretation
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.