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Glycogen Storage Disease IA (Maltese Type)

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Test Overview:

Genetic testing for the G6PC mutation is recommended in Maltese and related breeds to identify carriers and affected animals. Dogs with two copies of the mutation should not be bred to prevent affected offspring. Carriers can be bred only to dogs tested clear to avoid affected puppies. Avoid mating two carriers due to the 25% chance of affected puppies. Sharing results among breeders promotes reduction of this severe disease in the population.

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

Recommended Screening:

Genetic testing of the G6PC gene will reliably determine if a dog is a genetic carrier of glycogen storage disease IA (Maltese type).

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,

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