{"topic_id":"companion_breed_health_golden_retriever_mucopolysaccharidosis_i_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_golden_retriever_mucopolysaccharidosis_i_dog\ncategory: companion-breed-health\ntitle: \"Golden Retriever — Mucopolysaccharidosis I (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/golden_retriever_mucopolysaccharidosis_i_16.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 146\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_golden_retriever_mucopolysaccharidosis_i_dog/01_companion_breed_health_golden_retriever_mucopolysaccharidosis_i_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: \"Golden Retriever — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000664/9615/\"\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# Golden Retriever — Mucopolysaccharidosis I (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: Golden Retriever (Dog)`\n- `Disorder: Mucopolysaccharidosis I`\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: The mucopolysaccharidoses (MPS) are a group of hereditary diseases characterized by defective metabolism of glycosaminoglycans (mucopolysaccharides), which accumulate in lysosomes in various tissues.`\n- `Defect: yes`\n- `Prevalence: Mansour et al. (2020): The likely insertion causal variant was not detected in 120 unrelated Boston Terriers as well as 202 dogs from other breeds.`\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 4479646 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 1989. Long-Term Effects of Bone Marrow Transplantation in Dogs with  Mucopolysaccharidosis 1. American Journal of Pathology — PubMed:PMID2493739 — OMIA Phene_Article / Article\n- 1989. Corneal Opacity in Canine MPS-I - Changes After Bone Marrow  Transplantation. Investigative Ophthalmology & Visual Science — PubMed:PMID2503461 — OMIA Phene_Article / Article\n- 1990. Cardiovascular Changes After Bone Marrow Transplantation in  Dogs with Mucopolysaccharidosis-I. American Journal of Veterinary Research — PubMed:PMID2150744 — OMIA Phene_Article / Article\n- 1992. Cloning and Characterization of cDNA Encoding Canine alpha-L- Iduronidase - Messenger RNA Deficiency in  Mucopolysaccharidosis-I Dog. J Biol Chem — PubMed:PMID1551868 — OMIA Phene_Article / Article\n- 1992. Architecture of the Canine IDUA Gene and Mutation Underlying  Canine Mucopolysaccharidosis-I. Genomics — PubMed:PMID1339393 — OMIA Phene_Article / Article\n- 1994. Enzyme replacement in a canine model of Hurler syndrome. Proceedings of the National Academy of Sciences of the United  States of America — PubMed:PMID7809150 — OMIA Phene_Article / Article\n- 1996. Canine models for gene therapy. Transfusion Science — OMIA Phene_Article / Article\n- 1996. Humoral immune response limits gene therapy in canine MPS I. Blood — PubMed:PMID8704199 — OMIA Phene_Article / Article\n- 1996. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis. Biochemical & Molecular Medicine — OMIA Phene_Article / Article\n- 1996. Myoblast gene therapy in canine mucopolysaccharidosis i - abrogation by an immune response to alpha-l-iduronidase. Human Gene Therapy — PubMed:PMID8864760 | DOI:10.1089/hum.1996.7.13-1595 — OMIA Phene_Article / Article\n- 1998. Noncirrhotic portal hypertension and nodular regenerative hyperplasia of the liver in dogs with mucopolysaccharidosis type I. Hepatology — PubMed:PMID9696001 | DOI:10.1002/hep.510280214 — OMIA Phene_Article / Article\n- 1999. Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. Blood — PubMed:PMID10068662 — OMIA Phene_Article / Article\n- (38 additional references in OMIA)\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:607014 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607015 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607016 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:252800 (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 — Golden Retriever — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Golden Retriever — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2493739/","retrieved":"","ref":"PMID 2493739","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":906,"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."}