Burmese — Hyperoxaluria, primary, type II (Oxalosis II) (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_burmese_omia1487_cat category: companion-breed-health title: "Burmese — Hyperoxaluria, primary, type II (Oxalosis II) (hereditary; OMIA-verified breed predisposition)" lang: en source: "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." source_file: pdf-raw/breed-health/burmese_omia1487_1487.txt date_parsed: 2026-08-02 tokens_estimated: 784 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_burmese_omia1487_cat/01_companion_breed_health_burmese_omia1487_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: "Burmese — Hyperoxaluria, primary, type II (Oxalosis II) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000821/9685/" retrieved: "2026-08-02" ref: "OMIA breed-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 (breed-specific disorder entries)" needs_review: false

Burmese — Hyperoxaluria, primary, type II (Oxalosis II) (hereditary; OMIA-verified breed predisposition)

Source: 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.

Claims

• Breed: Burmese (Cat)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Summary: Acute-onset renal failure in young cats (lt;1 year of age) from deposition of oxalate crystals in renal tubules. Type II oxalosis is characterized by an increase in L-glyceric acid in the urine compared to type I oxalosis where glycolate and glyoxylate are increasingly excreted in the urine (McKerrell et al., 1989). Hyperoxaluria induces acute renal failure with recurrent calcium oxalate nephrolithiasis (Osborne et al., 2009). Cats have experienced a 10-fold increase in frequency of nephroliths in the past 20 years- of which calcium oxalate make up 70% of those uroliths (Osborne et al., 2009). Risk factors for calcium oxalate nephroliths include breed, neutered male status, 10 years of age, aciduria, hypercalciuria, hypercalcemia, hyperoxaluria, indoor status (reduced water intake, reduced urine output, obesity), and diets that are acidifying and restricting magnesium (Osborne et al., 2009; Lekcharoensuk et al. 2000). 56% of cats with uroliths suffer from chronic kidney disease (Osborne et al., 2009). (Compiled by Rachel Natsume 13/9/2021)
• Clin feat: Development of azotemia and neurological signs develop between 5 and 9 months of age (McKerrell et al., 1989). “The onset of signs was generally acute, with the development of anorexia, dehydration and weakness occurring over a few days … . Acutely ill cats were depressed, dehydrated and in poor bodily condition. Palpation of the abdomen revealed painful kidneys which were irregular in outline and frequently thought to be enlarged. In two cases the kidneys were shrunken. Deterioration was rapid...” (McKerrell et al., 1989). Generalized muscle atrophy occurs as a result of denervation of motor neurons and accumulation of neurofilaments in the spinal motor neurons (De Lorenzi et al., 2005). Spinal reflexes may be reduced to absent (De Lorenzi et al., 2005). Ethylene glycol toxicity (antifreeze) produces a similar clinical presentation of acute renal failure with histological evidence of renal oxalosis (McKerrell et al., 1989). Ultrasound examination of the kidneys can differentiate the cause of renal oxalosis by the echogenicity of the renal parenchyma. (Compiled by Rachel Natsume 13/9/2021)
• Defect: yes
• Pathology: An excess of circulating oxalate accumulates in the renal tubules as calcium oxalate crystals. “Blood analysis and urinalysis showed several abnormalities, including intermittent hyperoxaluria. The L-glyceric acid concentration was remarkably increased. Electrodiagnostic tests of the peripheral nervous system were abnormal. At necropsy, generalized muscle atrophy was observed. Microscopically, both kidneys showed intraluminal birefringent oxalate crystals. Motor neuron degeneration and accumulation of neurofilaments were observed in the axons of the spinal motor neurons.” (De Lorenzi et al., 2005). There is a deficiency in DGDH liver enzyme analogous to the human form of primary hyperoxaluria type II (McKerrell et al., 1989). (Compiled by Rachel Natsume 13/9/2021)

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: Entrez Gene ID 39711566 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: By sequencing the most likely comparative candidate gene (based on clinical signs), Goldstein et al. (2009) identified a causal mutation as a "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" (omia.variant:383). They speculated "that the lack of the necessary terminal AG sequence of intron 4 would result in a misplicing event. This would result in the splicing out of exon …

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.

• 1989. Enzymological characterization of a feline analogue of primary hyperoxaluria type-2 - A model for the human disease. J Inherit Metab Dis — PubMed:PMID2516173 | DOI:10.1007/BF01802035 — OMIA Phene_Article / Article
• 2009. Analysis of 451,891 canine uroliths, feline uroliths, and feline urethral plugs from 1981 to 2007: perspectives from the Minnesota Urolith Center. Vet Clin North Am Small Anim Pract — PubMed:PMID19038658 | DOI:10.1016/j.cvsm.2008.09.011 — OMIA Phene_Article / Article
• 2000. Association between patient-related factors and risk of calcium oxalate and magnesium ammonium phosphate urolithiasis in cats. J Am Vet Med Assoc — PubMed:PMID10953716 | DOI:10.2460/javma.2000.217.520 — OMIA Phene_Article / Article
• 1988. Primary hyperoxaluria and L-glyceric aciduria in the cat. J Inherit Metab Dis — PubMed:PMID3141705 — OMIA Phene_Article / Article
• 1989. Primary hyperoxaluria (L-glyceric aciduria) in the cat: a newly recognised inherited disease. Vet Rec — PubMed:PMID2773220 — OMIA Phene_Article / Article
• 2009. Primary hyperoxaluria in cats is caused by a mutation in the feline GRHPR gene. J Hered — DOI:https://doi.org/10.1093/jhered/esp038 — OMIA Phene_Article / Article
• 2005. Primary hyperoxaluria (L-glyceric aciduria) in a cat. J Feline Med Surg — PubMed:PMID15914058 | DOI:10.1016/j.jfms.2005.03.007 — OMIA Phene_Article / Article
• 2006. Feline primary hyperoxaluria. J Feline Med Surg — PubMed:PMID16603399 | DOI:10.1016/j.jfms.2006.02.001 — OMIA Phene_Article / Article
• 2001. Congenital and inherited renal disease of small animals. Vet Clin North Am Small Anim Pract — PubMed:PMID11265498 | DOI:10.1016/s0195-5616(01)50211-9 — OMIA Phene_Article / Article
• 2009. Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats. J Feline Med Surg — PubMed:PMID19095478 | DOI:10.1016/j.jfms.2008.11.003 — OMIA Phene_Article / Article
• 2005. Trends in the frequency of calcium oxalate uroliths in the upper urinary tract of cats. J Am Anim Hosp Assoc — PubMed:PMID15634865 | DOI:10.5326/0410039 — OMIA Phene_Article / Article
• 2009. Calcium oxalate urolithiasis. Compend Contin Educ Vet — PubMed:PMID20180219 — OMIA Phene_Article / Article
• (5 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:260000 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:604296 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

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."