West Highland White Terrier — L-2-hydroxyglutaric aciduria (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_west_highland_white_terrier_l_2_hydroxyglutaric_aciduria_dog category: companion-breed-health title: "West Highland White Terrier — L-2-hydroxyglutaric aciduria (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/west_highland_white_terrier_l_2_hydroxyglutaric_aciduria_2728.txt date_parsed: 2026-08-02 tokens_estimated: 91 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_west_highland_white_terrier_l_2_hydroxyglutaric_aciduria_dog/01_companion_breed_health_west_highland_white_terrier_l_2_hydroxyglutaric_aciduria_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "West Highland White Terrier — L-2-hydroxyglutaric aciduria (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001371/9615/" 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

West Highland White Terrier — L-2-hydroxyglutaric aciduria (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: West Highland White Terrier (Dog)
• Disorder: L-2-hydroxyglutaric aciduria
• Mode of inheritance: Autosomal recessive
• Summary: The first cases of this inborn error of metabolism in animals were reported by Abramson et al. (2001, 2003) [FN: 7 Oct 2003]
• Defect: yes

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 26585840 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Using a candidate gene strategy (based on the homologous disorder in humans), Penderis et al. (2007) sequenced "all 10 canine L2HGDH exons (with flanking intron regions) from the [Staffordshire bull terrier] affected dogs and two carrier dogs" and identified a causal mutation as "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu…

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.

• 2001. Metabolic defect in Staffordshire bull terriers. Veterinary Record — PubMed:PMID11708646 — OMIA Phene_Article / Article
• 2003. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID12892307 — OMIA Phene_Article / Article
• 2003. L-2-hydroxyglutaric aciduria in Staffordshire bull terriers. Veterinary Record — PubMed:PMID12892272 — OMIA Phene_Article / Article
• 2005. L-2-hydroxyglutaric aciduria in a West Highland white terrier. Vet Rec — PubMed:PMID15715007 — OMIA Phene_Article / Article
• 2007. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet — PubMed:PMID17475916 | DOI:10.1136/jmg.2006.042507 — OMIA Phene_Article / Article
• 2008. Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria. J Comp Pathol — PubMed:PMID18295785 | DOI:10.1016/j.jcpa.2007.11.005 — OMIA Phene_Article / Article
• 2010. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Vet Rec — PubMed:PMID20852250 | DOI:10.1136/vr.c4476 — OMIA Phene_Article / Article
• 2012. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc — PubMed:PMID22843824 | DOI:10.5326/JAAHA-MS-5967 — OMIA Phene_Article / Article
• 2012. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res — PubMed:PMID22834903 | DOI:10.1186/1746-6148-8-124 — OMIA Phene_Article / Article
• 2014. L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. J S Afr Vet Assoc — PubMed:PMID24830757 | DOI:10.4102/jsava.v85i1.1042 — OMIA Phene_Article / Article
• 2016. Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. Vet Rec — PubMed:PMID27729589 | DOI:10.1136/vr.103783 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article

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:236792 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609584 (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."