{"topic_id":"companion_breed_health_neva_masquerade_omia2795_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_neva_masquerade_omia2795_cat\ncategory: companion-breed-health\ntitle: \"Neva Masquerade — Pyruvate kinase deficiency of erythrocyte (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/neva_masquerade_omia2795_2795.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 362\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_neva_masquerade_omia2795_cat/01_companion_breed_health_neva_masquerade_omia2795_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: \"Neva Masquerade — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000844/9685/\"\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# Neva Masquerade — Pyruvate kinase deficiency of erythrocyte (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: Neva Masquerade (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Pyruvate kinase (PK) is an essential catalyst in the production of ATP, PK deficiency (PKD) results in ATP depletion. This leads to shortened erythrocyte life span and haemolytic anaemia (Barrs et al., 2009; Al-Samkari et al., 2020). Although carriers are asymptomatic, only half of the normal PK activity is expressed (Kohn amp; Fumi 2008). Due to chronic, intermittent haemolytic anaemia, common PKD clinical signs include lethargy, weight loss, pale mucous membrane, inappetence, and jaundice. Blood work usually indicates anaemia with mild to moderate reticulocytosis and hyperbilirubinaemia. The severity of clinical signs and the age on onset is highly variable, ranging from one month to five years (Kohn amp; Fumi, 2008; Barrs et al., 2009; Grahn et al., 2012). IT thanks DVM student Alice Lao, who provided the basis of this contribution in May 2023.`\n- `Defect: yes`\n- `Prevalence: Grahn et al. (2012) genotyped 14,179 cats representing 40 breeds or populations for the causal (intronic) transition. The mutation was present in 13 breeds and two other populations (random-bred cats and unspecified cats). Within these 15 breeds/populations that have the mutation, its frequency ranges from 0.078% in the Exotic Shorthair to 12.97% in the Bengal, with an average frequency of 9.35%.`\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 389719565 (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), Giger et al. (1997) identified a causative mutation as a splicing defect in the R/L-PK gene (omia.variant:899) that gives rise to 13-bp deletion (Barrs et al., 2009). The gene symbol is now PKLR. Grahn et al. (2012) reported that the splicing defect and hence deletion is a consequence of a …\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- 2005. Pyruvate kinase deficiency in a Somali cat in Australia. Aust Vet J — PubMed:PMID16119420 — OMIA Phene_Article / Article\n- 2000. Anemia, splenomegaly, and increased osmotic fragility of erythrocytes in Abyssinian and Somali cats. J Am Vet Med Assoc — PubMed:PMID11128538 — OMIA Phene_Article / Article\n- 1997. Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats. Blood — OMIA Phene_Article / Article\n- 2009. Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. Aust Vet J — PubMed:PMID19178476 | DOI:10.1111/j.1751-0813.2008.00381.x — OMIA Phene_Article / Article\n- 2008. Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. J Small Anim Pract — PubMed:PMID12022416 — OMIA Phene_Article / Article\n- 2008. Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. J Feline Med Surg — PubMed:PMID18077199 | DOI:10.1016/j.jfms.2007.09.006 — OMIA Phene_Article / Article\n- 2007. Treatment and long-term follow-up of extrahepatic biliary obstruction with bilirubin cholelithiasis in a Somali cat with pyruvate kinase deficiency. J Feline Med Surg — PubMed:PMID17475529 | DOI:10.1016/j.jfms.2007.02.003 — OMIA Phene_Article / Article\n- 1992. Inherited erythrocyte pyruvate kinase (PK) deficiency causing haemolytic anaemia in an Abyssinian cat (Abstract). J Vet Intern Med. — OMIA Phene_Article / Article\n- 2005. Anaemia due to erythrocytic pyruvate kinase deficiency in Somali and Abyssinian cats in Germany. Kleintierpraxis — OMIA Phene_Article / Article\n- 2006. Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Vet Clin Pathol — PubMed:PMID16783707 | DOI:10.1111/j.1939-165x.2006.tb00108.x — OMIA Phene_Article / Article\n- 2012. Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res — PubMed:PMID23110753 | DOI:10.1186/1746-6148-8-207 — OMIA Phene_Article / Article\n- 2015. Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. J Vet Med Sci — PubMed:PMID25716288 | DOI:10.1292/jvms.14-0600 — OMIA Phene_Article / Article\n- (3 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:266200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:609712 (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 — Neva Masquerade — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Neva Masquerade — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/16119420/","retrieved":"","ref":"PMID 16119420","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":1201,"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."}