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Glycogen Storage Disease IA (Maltese Type)

US$ 94.00 RRP

US$ 50.00 (USER PRICE)

Description:

This is an inherited metabolic disorder affecting Maltese dogs. Glycogen is the primary carbohydrate used by the body for energy. Affected dogs do not have sufficient enzymes to break down glycogen causing accumulation of glycogen in the organs of the dog, including the liver, heart and kidneys. Many affected dogs die before or at birth resulting in small litter sizes with mummified fetuses and stillborn puppies. Symptoms in affected puppies that survive include failure to thrive, lethargy, low blood sugar, enlarged liver, coma and difficulty breathing. Without nutritional therapy affected dogs die within 2 months of age. Even with nutritional therapy affected dogs rarely survive to 6 months of age.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Glucose-6-phosphatase catalytic subunit (G6PC) on Chromosome 9

Variant Detected:

Base Substitution c.450G>C p.Met121Ile

Severity:

Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Kishnani PS. et al. Isolation and Nucleotide Sequence of Canine Glucose-6-phosphatase mRNA: Identification of Mutation in Puppies with Glycogen Storage Disease Type Ia. (1997) Biochem Mol Med 61(2);168-177

Associated Breed(s):

Maltese, Mixed Breed, Moodle,