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Glycogen Storage Disease IA (Maltese Type)

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,
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