--- license: permission_granted topic_id: companion_breed_health_american_cocker_spaniel_omia729_dog category: companion-breed-health title: "American Cocker Spaniel — Glycogen storage disease VII (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/american_cocker_spaniel_omia729_729.txt date_parsed: 2026-08-02 tokens_estimated: 626 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_cocker_spaniel_omia729_dog/01_companion_breed_health_american_cocker_spaniel_omia729_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: "American Cocker Spaniel — Glycogen storage disease VII (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000421/9615/" 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
American Cocker Spaniel — Glycogen storage disease VII (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: American Cocker Spaniel (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Phosphofructokinase (PFK) deficiency is an inherited enzyme deficiency causing hemolytic crises and exertional myopathy. Genetic tests are available to detect causative mutations, which have beend identical in the English springer spaniel, American cocker spaniel, Whippet and Wachtelhund. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and updated by IT [April 2022]Clin feat: Presenting signs include muscle cramps, exercise intolerance, and a mild increase in creatine kinase. Affected dogs can also present in hemolytic crisis with hemoglobinuria and bilirubinuria after excessive excitement, exercise, or hyperthermia. During a crisis, the dog can develop severe anemia, icterus, fever, lethargy, and anorexia. This anemia is regenerative, usually resolving within several days. Affected animals have a normal life span, usually maintaining a normal PCV but persistent bilirubinuria and reticulocytosis. Variable muscle wasting, hepatosplenomegaly, and increased total body iron stores have also been reported (Gerber et al., 2009).Defect: yesPathology: PFK, a cytosolic enzyme in the anaerobic pathway, is composed of three subunits: muscle (M-PFK), liver (L-PFK), and platelet (P-PFK) types. These subunits are present in different proportions in different tissues. Affected dogs lack PFK in skeletal muscle, and have only 20% of normal PFK activity in erythrocytes, which is from L-PFK and P-PFK expression (Gerber et al., 2009). Their PFK-deficient erythrocytes have hemoglobin with high oxygen affinity that helps to compensate for transient but severe anemic episodes (Skibild et al., 2001). Hemolytic crises in affected dogs are precipitated by hyperventilation, hyperthermia, and associated alkalemia, which induce intravascular hemolysis (Skibild et al., 2001).Prevalence: Canine PFK deficiency has been reported in the USA, the UK, and Europe. Of 600 English Springer Spaniels screened in the USA, 14% were carriers and 6% were affected (Skibild, 2001).Control: Dogs of breeds or families in which the disease has been reported should be tested prior to pursuing athletic work such as field trials.Gen test: There is a PCR-based test available to detect the mutation in the English springer spaniel, American cocker spaniel and Whippet. A second mutation has been identified in Wachtelhund breed.
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: ATP-PFK (Entrez Gene ID 403849) — OMIA Phene_Gene / GeneSynonym
Causal variant(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.
- Variant: allele D; chromosome 8; pathogenicity class 1 — OMIA Variant / Variant_Phene
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.
- 1990. Polysaccharide Storage Myopathy in Canine Phosphofructokinase Deficiency (Type-VII Glycogen Storage Disease). Veterinary Pathology — PubMed:PMID2137952 — OMIA Phene_Article / Article
- 1987. Hemolysis caused by phosphofructokinase deficiency in English Springer Spaniels: seven cases. Journal of the American Veterinary Medical Association — PubMed:PMID2958437 — OMIA Phene_Article / Article
- 1987. Nonspherocytic haemolytic anaemia due to phosphofructokinase deficiency in an English Springer Spaniel. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 1992. Developmental Changes of 6-Phosphofructo-1-Kinase Subunit Levels in Erythrocytes from Normal Dogs and Dogs Affected by Glycogen Storage Disease Type-VII. Comparative Biochemistry and Physiology B - Comparative Biochemistry — OMIA Phene_Article / Article
- 1991. Presence of a Truncated M-Type Subunit and Altered Kinetic Properties of 6-Phosphofructo-1-Kinase Isozymes in the Brain of a Dog Affected by Glycogen Storage Disease Type-VII. Enzyme — PubMed:PMID1840037 — OMIA Phene_Article / Article
- 1992. Inherited Phosphofructokinase Deficiency in an American Cocker Spaniel. Journal of the American Veterinary Medical Association — PubMed:PMID1289336 — OMIA Phene_Article / Article
- 1994. Haematology and Clinical Chemistry of English Springer Spaniel Dogs with Phosphofructokinase Deficiency. Comparative Haematology International — OMIA Phene_Article / Article
- 1994. Metabolic and work capacity of skeletal muscle of PFK- deficient dogs studied in situ. Journal of Applied Physiology — PubMed:PMID7868469 — OMIA Phene_Article / Article
- 1996. Molecular basis of canine muscle type phosphofructokinase deficiency. Journal of Biological Chemistry — PubMed:PMID8702726 — OMIA Phene_Article / Article
- 1999. In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency. Muscle & Nerve — PubMed:PMID10331362 — OMIA Phene_Article / Article
- 2001. Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels. Journal of Small Animal Practice — PubMed:PMID11440399 — OMIA Phene_Article / Article
- 1986. Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs. Anim Genet — PubMed:PMID2940948 — OMIA Phene_Article / Article
- (10 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:232800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:610681 (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."