{"topic_id":"companion_species_health_mucopolysaccharidosis_vii_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_mucopolysaccharidosis_vii_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Mucopolysaccharidosis VII (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/cat_mucopolysaccharidosis_vii_1257.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 553\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_mucopolysaccharidosis_vii_cat/01_companion_species_health_mucopolysaccharidosis_vii_cat.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: \"Cat (Felis catus) — Mucopolysaccharidosis VII (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000667/9685/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Cat (Felis catus) — Mucopolysaccharidosis VII (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Cat (Felis catus)`\n- `Disorder: Mucopolysaccharidosis VII`\n- `Mode of inheritance: No breeding data available, but presumably autosomal recessive.`\n- `Summary: This lysosomal storage disease was first described in cats (a black domestic short-haired cat from Switzerland) by Gitzelmann et al. (1994), who reported a lack of the enzyme beta-glucuronidase.`\n- `Clin feat: (From Gitzelmann et al., 1994) The affected cat was presented at 12-14 weeks of age, with walking difficulties and an enlarged abdomen. He was small for his age, and showed intense licking. He was, however, active and attentive. His face was broad, cheeks were high, and nose was short. There were signs of frontal bossing, corneal clouding, plump front paws with inside rotation, and mild thickening of the skin, especially over the paws. His ears were small and their tips were distorted. Other signs included lengthened tongue, extended abdomen, and funnel-shaped lower thoracic opening. He walked with his weight shifted to his front paws. The clinical course was progressive: the rear legs showed reduced proprioceptivity and no tactile reflexes, hyperreflexia (patellar and tibialis cranialis reflexes), and positive crossed extensor reflexes. Cuticular reflexes were not elicited. Grand mal seizures lasted up to 20 seconds and could be evoked by stimulation of the skin over his back. His neck became stiff, and walking became almost impossible. Excessive scaling of the skin occurred. Patellae could be dislocated with ease; cruciate ligaments were lax. Tongue and first digits became irritated from excessive licking. Growth decelerated. He was euthanased at 5.5-6 months.`\n- `Pathology: (From Gitzelmann et al., 1994) Activity of beta-glucuronidase was absent from leucocytes, and was markedly reduced in fibroblasts. Neutrophils were granulated; lymphocytes vacuolated. Positive urine test for sulfated glycosaminoglycans. Foam cells in almost all organs; pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphingolipids in the form of zebra bodies in ganglion cells of the central nervous system and in smoothh muscle cells of blood vessels.`\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 493879 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Fyfe et al. (1999) reported the molecular basis of this disorder in cats to be a missense mutation in the GUSB gene encoding the enzyme beta-glucuronidase. The authors reported that this mutation is \"a G-to-A transition in the affected cat cDNA that predicted an E351K substitution [omia.var…\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- 1994. Feline mucopolysaccharidosis VII due to beta-glucuronidase  deficiency. Veterinary Pathology — PubMed:PMID7941232 — OMIA Phene_Article / Article\n- 1999. Molecular basis of feline beta-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII. Genomics — PubMed:PMID10366443 | DOI:10.1006/geno.1999.5825 — OMIA Phene_Article / Article\n- 2000. Mucopolysaccharidosis VII in a cat. Veterinary Pathology — PubMed:PMID11055883 — OMIA Phene_Article / Article\n- 2012. Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol — PubMed:PMID23121383 | DOI:10.1111/j.1939-165x.2012.00485.x — OMIA Phene_Article / Article\n- 2015. Mucopolysaccharidosis VII in a cat caused by 2 adjacent missense mutations in the GUSB gene. J Vet Intern Med — PubMed:PMID26118695 | DOI:10.1111/jvim.13569 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\n- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:253220 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611499 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — Mucopolysaccharidosis VII (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Mucopolysaccharidosis VII (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7941232/","retrieved":"","ref":"PMID 7941232","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":1131,"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."}