--- license: permission_granted topic_id: companion_breed_health_maltese_terrier_omia723_dog category: companion-breed-health title: "Maltese Terrier — Glycogen storage disease Ia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/maltese_terrier_omia723_723.txt date_parsed: 2026-08-02 tokens_estimated: 579 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_maltese_terrier_omia723_dog/01_companion_breed_health_maltese_terrier_omia723_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Maltese Terrier — Glycogen storage disease Ia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000418/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Maltese Terrier — Glycogen storage disease Ia (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Maltese Terrier (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Glycogen storage disease I is a severe disorder of glycogen metabolism characterized by glycogen accumulation, particularly in the liver. Signs include severe hepatomegaly, failure to thrive, coma, and death. There is a genetic test available.Clin feat: Affected animals are hypoglycemic if fasted, and develop lactic acidosis, hypertriglyceridemia, and hyperuricemia (Specht et al., 2011). Signs include severe hepatomegaly, poor body condition, lethargy, failure to thrive, coma, and death.Defect: yesPathology: Glucose-6-phosphate catalyzes the production of glucose from glucose-6-phosphate. The mutant G6PC has 15 times less activity than the normal enzyme (Kishnani et al., 1997) and decreased amounts in the liver and kidney (Kishnani et al., 2001). Affected dogs develop severe hypoglycemia, glycogen storage, and progressive hepatomegaly. Hepatocytes are diffusely vacuolated, containing large quantities of glycogen. Soft tissue mineralization can occur in renal tubules and pulmonary alveolar septa (Brix et al., 1995).Prevalence: Christen et al. (2021) genotyped 208 German Pinscher dogs for the German Pinscher variant and identified a carrier frequency of 12%.Control: Parents and siblings of affected dogs should be tested. Mating that could result in affected dogs should be avoided. Arnson et al. (2023) attempted genome editing ... in a dog model for GSD Ia. We demonstrated donor transgene integration in the liver of three adult-treated dogs accompanied by stable G6Pase expression and correction of hypoglycemia during fasting. Two puppies with GSD Ia were treated by genome editing that achieved donor transgene integration in the liver. Integration frequency ranged from 0.5% to 1% for all dogs. ... Thus, genome editing can integrate a therapeutic transgene in the liver of a large animal model, either early or later in life, and further development is warranted to provide a more stable treatment for GSD Ia. (This study involves genetically modified organisms (GMO).Gen test: The base substitution in Maltese Terriers removes an NcoI restriction site, thereby enabling a simple RFLP PCR test to detect carriers.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: G6Pase (Entrez Gene ID 3429665) — OMIA Phene_Gene / GeneSynonym
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1995. Glycogen storage disease type Ia in two littermate maltese puppies. Veterinary Pathology — PubMed:PMID8578635 — OMIA Phene_Article / Article
- 1997. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med — PubMed:PMID9259982 | DOI:10.1006/bmme.1997.2600 — OMIA Phene_Article / Article
- 2001. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Veterinary Pathology — PubMed:PMID11199168 — OMIA Phene_Article / Article
- 2002. Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. Gene Therapy — PubMed:PMID12101432 | DOI:10.1038/sj.gt.3301728 — OMIA Phene_Article / Article
- 2011. Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol — PubMed:PMID21318173 | DOI:10.1155/2011/646257 — OMIA Phene_Article / Article
- 2011. Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. Gene Ther — PubMed:PMID21654821 | DOI:10.1038/gt.2011.86 — OMIA Phene_Article / Article
- 2010. Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther — PubMed:PMID20163245 | DOI:10.1089/hum.2009.157 — OMIA Phene_Article / Article
- 2008. AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther — PubMed:PMID18362924 | DOI:10.1038/mt.2008.15 — OMIA Phene_Article / Article
- 2013. Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab — PubMed:PMID23623482 | DOI:10.1016/j.ymgme.2013.03.018 — OMIA Phene_Article / Article
- 2012. In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis — PubMed:PMID22310927 | DOI:10.1007/s10545-012-9454-5 — OMIA Phene_Article / Article
- 2012. Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther — PubMed:PMID22185325 | DOI:10.1089/hum.2011.106 — OMIA Phene_Article / Article
- 2009. Gene therapy for inhereted metabolic disorders in companion animals. ILAR J — PubMed:PMID19293457 | DOI:10.1093/ilar.50.2.122 — OMIA Phene_Article / Article
- (8 additional references in OMIA)
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:232200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613742 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."