{"topic_id":"companion_species_health_dihydropyrimidinase_deficiency_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_dihydropyrimidinase_deficiency_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Dihydropyrimidinase deficiency (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_dihydropyrimidinase_deficiency_3460.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 198\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_dihydropyrimidinase_deficiency_cat/01_companion_species_health_dihydropyrimidinase_deficiency_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) — Dihydropyrimidinase deficiency (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA001776/9685/\"\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) — Dihydropyrimidinase deficiency (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: Dihydropyrimidinase deficiency`\n- `Mode of inheritance: Because only one case has been reported, there are no segregation data. However, since the disorder has been shown to be due to an enzyme deficiency, it is almost certain to have autosomal recessive inheritance.`\n- `Clin feat: As reported by Chang et al. (2012), \"A gas chromatographic–mass spectrometric analysis of urinary metabolic substances showed the presence of large amounts of dihydrouracil and dihydrothymine and moderate amounts of uracil and thymine, suggesting DHP deficiency\".`\n- `Pathology: Genotyping 1000 Japanese cats for this mutation revealed no copies of the allele, suggesting that it must be a relatively new 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 389717086 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: On the strength of the clinical evidence implying a deficiency of the enzyme dihydropyrimidinase (see section on Clinical features), Chang et al. (2012) used the direct candidate gene approach and sequenced the DPYS gene encoding this enzyme, in the affected cat, showing that \"the cat was homozygous for the missense mutation c.1303G&gt;A (p.G435R) [omia.variant:125] in exon 8, which corresponds to…\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- 2012. Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep — PubMed:PMID23430934 | DOI:10.1007/8904_2012_139 — 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:222748 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613326 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — Dihydropyrimidinase deficiency (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Dihydropyrimidinase deficiency (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/23430934/","retrieved":"","ref":"PMID 23430934","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":664,"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."}