Header Image

Glycogenosis (GSD) Type IV

Related Terms:

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

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other
Sample Processing
Cost: $75.00
Species and Breeds:
Feline - Norwegian Forest Cat

We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical Signs:

Elevated body temperature, weakness, signs associated with heart disease, ataxia and death.

Life Expectancy:

4 years

Inheritence Mode:

Autosomal recessive

Pathology:

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.

Mutation:

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.

References:

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.