{"topic_id":"companion_breed_health_curly_coated_retriever_omia3100_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_curly_coated_retriever_omia3100_dog\ncategory: companion-breed-health\ntitle: \"Curly Coated Retriever — Glycogen storage disease IIIa (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/curly_coated_retriever_omia3100_3100.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 912\nverification:\n  method: substring_match\n  claims: 9\n  passed: 9\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_curly_coated_retriever_omia3100_dog/01_companion_breed_health_curly_coated_retriever_omia3100_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Curly Coated Retriever — Glycogen storage disease IIIa (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001577/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Curly Coated Retriever — Glycogen storage disease IIIa (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Curly Coated Retriever (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Glycogen storage disease IIIa (GSD IIIa) is a disorder of glycogen metabolism characterized by glycogen accumulation in tissue and altered glucose homeostasis. Lethargy, exercise intolerance, and collapse after exercise may become apparent by 14 months of age. Dogs with GSD IIIa are deficient in glycogen debranching enzyme, so instead of breaking down glycogen into glucose, they accumulate abnormal glycogen particles. This mostly happens in liver and muscle, which are the tissues that have the highest levels of glycogen metabolism. The mode of inheritance is autosomal recessive. The causative mutation is an adenosine deletion causing premature termination of AGL translation. A test is available to detect the mutation. Parents and siblings of affected dogs should be tested. Breeding of affected animals is not recommended. If a carrier must be bred, it is advised to breed that dog only to a dog that has tested as homozygous normal. Edited by John C. Fyfe, D.V.M., Ph.D.`\n- `Clin feat: Affected dogs show increases in ALT, ALP, and CK within the first year of life. By 14 months of age, lethargy, exercise intolerance, and collapse after exercise may become apparent (Gregory et al., 2007). The disease in Curly-Coated Retrievers is mild compared to what was reported in German shepherds (Ceh et al., 1976; Rafiquzzaman et al., 1976) as a severe metabolic derangement that led to death or euthanasia by 15 months of age. This is likely due to a different mutation or genetic background. Yi et al. (2012) provided a detailed clinical account of the disorder in Curly Coat Retrievers, having established a colony that segregates for the causal mutation described above. They summarise their findings as: Abnormally high glycogen deposition was found in liver and muscle, and, consistent with liver and muscle damage, high and gradually increasing activity of enzymes including AST, ALT, ALP and CPK were found in serum. In muscle, increased glycogen deposition was accompanied by disruption of the contractile apparatus and fraying of myofibrils. Progressive, age-related liver fibrosis and muscle damage caused by glycogen accumulation were the major features of GSD IIIa in affected dogs.`\n- `Defect: yes`\n- `Pathology: In a normal dog, the release of glucagon stimulates the breakdown of glycogen. This breakdown happens through the work of phosphorylase and glycogen debranching enzyme. Dogs with GSD IIIa are deficient in glycogen debranching enzyme, so instead of breaking down glycogen into glucose, they accumulate abnormal glycogen particles. This mostly happens in liver and muscle, which are the tissues that have the highest levels of glycogen metabolism (Gregory et al., 2007). Livers of affected animals are dark red, enlarged, and friable, with smooth edges and a grainy surface appearance. On histologic examination, hepatocytes show global cellular swelling with diaphanous eosinophilic (foamy) cytoplasm, but no evidence of inflammation, fibrosis, or cytoplasmic fat. Glycogen accumulation is evident with PAS staining (Gregory et al., 2007). Glucose homeostasis may be sufficiently affected in times of stress to cause hypoglycemia.`\n- `Control: Parents of affected dogs are obligate carriers, and siblings should be tested. Breeding of affected animals is not recommended. If a carrier must be bred, it is advised to breed that dog only to a dog that has tested as homozygous normal.`\n- `Gen test: A test is available to detect the mutation.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 3479617 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: The causative mutation is an adenosine deletion causing premature termination of AGL translation (Gregory et al., 2007).  There is an analogous human condition (OMIM# 232400).\n\n## Evidence (references)\nDerived 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.\n- 2007. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med — PubMed:PMID17338148 | DOI:10.1892/0891-6640(2007)21[40:gsdtii]2.0.co;2 — OMIA Phene_Article / Article\n- 1983. Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis — PubMed:PMID6408305 — OMIA Phene_Article / Article\n- 1977. [Glycogen storage disease (III ?) of dogs]. Jikken Dobutsu — PubMed:PMID267585 — OMIA Phene_Article / Article\n- 1976. Glycogenosis type III in the dog. Acta Vet Scand — PubMed:PMID181976 — OMIA Phene_Article / Article\n- 1976. Glycogenosis in the dog. Acta Vet Scand — PubMed:PMID1066041 — OMIA Phene_Article / Article\n- 2012. Characterization of a canine model of glycogen storage disease type IIIa. Dis Model Mech — PubMed:PMID22736456 | DOI:10.1242/dmm.009712 — OMIA Phene_Article / Article\n- 2014. Correction of glycogen storage disease type III with rapamycin in a canine model. J Mol Med (Berl) — PubMed:PMID24509886 | DOI:10.1007/s00109-014-1127-4 — OMIA Phene_Article / Article\n- 2016. Natural Progression of Canine Glycogen Storage Disease Type IIIa. Comp Med — PubMed:PMID26884409 — OMIA Phene_Article / Article\n- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:232400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:610860 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Curly Coated Retriever — Glycogen storage disease IIIa (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Curly Coated Retriever — Glycogen storage disease IIIa (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/17338148/","retrieved":"","ref":"PMID 17338148","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1436,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}