--- license: permission_granted topic_id: companion_species_health_mucopolysaccharidosis_vi_cat category: companion-species-health title: "Cat (Felis catus) — Mucopolysaccharidosis VI (hereditary; OMIA-verified species predisposition)" lang: en source: "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." source_file: pdf-raw/species-health/cat_mucopolysaccharidosis_vi_1255.txt date_parsed: 2026-08-24 tokens_estimated: 1026 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_mucopolysaccharidosis_vi_cat/01_companion_species_health_mucopolysaccharidosis_vi_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Cat (Felis catus) — Mucopolysaccharidosis VI (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA000666/9685/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Cat (Felis catus) — Mucopolysaccharidosis VI (hereditary; OMIA-verified species predisposition)
Source: 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.
Claims
Species: Cat (Felis catus)Disorder: Mucopolysaccharidosis VISummary: Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease characterized by intracellular accumulation of the glycosaminoglycan dermatan sulfate. Signs first appear at 6 to 8 weeks of age. There are genetic tests available for two reported mutations. Edited by Mark E Haskins, VMD, PhDClin feat: The L476P homozygotes show dwarfism and facial dysmorphia due to epiphyseal dysplasia, whereas the other two genotypes (L476P/D520N heterozygotes and D520N homozygotes) show normal growth and appearance. Signs of severe disease first appear at 6 to 8 weeks of age . Affected cats have wide faces with shortened noses, small ears, and develop reduced cervical and lumbar spine flexibility (Cowell et al., 1976; Jezyk et al., 1977, Haskins et al., 1979). They grow more slowly than normal siblings and can develop hindlimb paresis or paralysis due to spinal cord compression prior to 8 months of age (Crawley et al., 2003). On radiographs, there is generalized osteopenia with a coarse trabecular pattern and severe epiphyseal dysplasia of the vertebrae. Signs of degenerative joint disease include irregular subchondral bone outlines and osteophyte development (Crawley et al., 2003). Affected animals are cognitively normal (Walkley et al., 2005).Pathology: Affected cats are deficient in the lysosomal enzyme arylsulfatase B (also known as N-acetylgalactosamine 4-sulfatase). Dermatan sulfate accumulates intracellularly and is excreted in urine (Haskins et al., 1980). Cats homozygous for the L476P mutation develop severe skeletal disease, corneal clouding, heart valve thickening, and have prominent cytoplasmic granules in white blood cells. Cats homozygous for D520N do not develop clinically significant disease (Crawley et al., 2003), but have prominent cytoplasmic granules in white blood cells. Although affected cats accumulate gangliosides and unesterified cholesterol within individual pyramidal neurons, there are no noticeable neurologic deficits (Walkley et al., 2005). There is an analogous human condition (Maroteaux-Lamy syndrome, OMIM# 253200).Prevalence: Allelic frequency of the L476P substitution (omia.variant:132) is low in the general Siamese cat population, but is present across the USA, and has been reported in Italy and Eastern Europe. The disease has also been seen in non-Siamese cats (Haskins, personal communication). Bravaccini et al. (2022) report clinical signs of a 10-month-old, intact female, Domestic Shorthair cat with mucopolysaccharidosis type VI. Genotyping identified the presence of the ARSB variant L476P. The allelic frequency of the D520N (omia.variant:1320) substitution is higher (11.4%) in the Siamese cat population (Crawley et al., 2003).Control: Siblings of affected cats should be tested. Affected or carrier cats should not be bred.Gen test: A timely warning has been issued by Lyons et al. (2016): "No health problems are associated with the D520N [omia.variant:1320] variant, however, breeders that obtain positive results for this variant are speculating as to possible correlation with health concerns. Birman cats already have a markedly reduced gene pool and have a high frequency of the MPS VI D520N variant. Further reduction of the gene pool by eliminating cats that are heterozygous or homozygous for only the MPS VI D520N variant could lead to more inbreeding depression effects on the breed population. Herein is debated the genetic testing of the MPS VI D520N variant in cats. Surveys from different laboratories suggest the L476P [omia.variant:132] disease-associated variant should be monitored in the cat breed populations, particularly breeds with Siamese derivations and outcrosses. However, the D520N has no evidence of association with disease in cats and testing is not recommended in the absence of L476P genotyping. Selection against the D520N is not warranted in cat populations. More rigorous guidelines may be required to support the genetic testing of DNA variants in all animal species."
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: ASB (Entrez Gene ID 39690324) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Yogalingam et al. (1996) identified a base substitution at codon 476, c.1427T>C (omia.variant:132), giving rise to a substitution of proline for leucine (p.L476P), in the feline <em>ARSB</em> (arylsulfatase B) gene. The mutant peptide appears only as a precursor, and shows no functional …
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.
- 1976. Mucopolysaccharidosis in a cat. Journal of the American Veterinary Medical Association — PubMed:PMID134013 — OMIA Phene_Article / Article
- 1979. Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification. Pediatric Research — PubMed:PMID229456 — OMIA Phene_Article / Article
- 1989. Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis-VI (MPS-VI). Vet Pathol — PubMed:PMID2503918 | DOI:10.1177/030098588902600402 — OMIA Phene_Article / Article
- 1992. Hepatic storage of glycosaminoglycans in feline and canine models of mucopolysaccharidoses I, VI, and VII. Vet Pathol — PubMed:PMID1632054 | DOI:10.1177/030098589202900203 — OMIA Phene_Article / Article
- 1993. Characterization of Osteopenia in Feline Mucopolysaccharidosis-VI and Evaluation of Bone Marrow Transplantation Therapy. Bone — PubMed:PMID8363879 — OMIA Phene_Article / Article
- 1993. Mucopolysaccharidosis-VI in a Kitten - A Case Report and Discussion of Feline Maroteaux-Lamy Syndrome. Feline Practice — OMIA Phene_Article / Article
- 1993. Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis-VI. Biochemical and Biophysical Research Communications — PubMed:PMID7504466 — OMIA Phene_Article / Article
- 1995. Growth plate pathology in feline mucopolysaccharidosis VI. Calcified Tissue International — PubMed:PMID8574934 — OMIA Phene_Article / Article
- 1995. Bone mineral density in feline mucopolysaccharidosis VI measured using dual-energy X-ray absorptiometry. Calcified Tissue International — PubMed:PMID8574935 — OMIA Phene_Article / Article
- 1995. Bone changes in mucopolysaccharidosis vi in cats and the effects of bone marrow transplantation - mechanical testing of long bones. Bone — PubMed:PMID8579961 — OMIA Phene_Article / Article
- 1996. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. Journal of Clinical Investigation — PubMed:PMID8621770 | DOI:10.1172/JCI118617 — OMIA Phene_Article / Article
- 1996. Feline mucopolysaccharidosis type VI - characterization of recombinant n-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. Journal of Biological Chemistry — PubMed:PMID8910299 — OMIA Phene_Article / Article
- (59 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:253200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611542 (type: gene) — OMIA Group_OMIM (via OMIA_ID)