Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Inherited phosphofructokinase deficiency in an American cocker spaniel.

U Giger1, B F Smith, C B Woods

  • 1Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010.

Journal of the American Veterinary Medical Association
|November 15, 1992
PubMed
Summary

Phosphofructokinase deficiency, a genetic disorder causing red blood cell destruction, was identified in an American Cocker Spaniel. The same mutation found in English Springer Spaniels suggests an ancient origin for this inherited condition.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Risk factors for severe morbidity and definitive stoma after elective surgery for sigmoid diverticulitis: a multicenter national cohort study.

Techniques in coloproctology·2024
Same author

Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b<sub>5</sub> reductase deficiency in 30 dogs.

Scientific reports·2020
Same author

ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.

Animal genetics·2020
Same author

CMAH genotyping survey for blood types A, B and C (AB) in purpose-bred cats.

Animal genetics·2019
Same author

Isoflurane disrupts excitatory neurotransmitter dynamics via inhibition of mitochondrial complex I.

British journal of anaesthesia·2018
Same author

Long-term Treatment with Methylene Blue in a Dog with Hereditary Methemoglobinemia Caused by Cytochrome b5 Reductase Deficiency.

Journal of veterinary internal medicine·2017

Area of Science:

  • Veterinary Genetics
  • Canine Medicine
  • Biochemistry

Background:

  • Phosphofructokinase (PFK) deficiency is an inherited erythroenzymopathy and myopathy.
  • This condition typically affects English Springer Spaniels, causing chronic hemolytic disorder and crises.

Observation:

  • A 3-year-old female American Cocker Spaniel presented with chronic hemolytic disorder and recurrent hemolytic crises.
  • Family studies supported an autosomal recessive inheritance pattern for the condition in this dog.
  • No English Springer Spaniel ancestry was identified in the affected Cocker Spaniel's lineage.

Findings:

  • Molecular genetic analysis revealed the same M-type phosphofructokinase mutation in this American Cocker Spaniel as previously reported in English Springer Spaniels.
  • This finding indicates the mutation likely predates the divergence of the American Cocker Spaniel and English Springer Spaniel breeds.

Related Experiment Videos

Implications:

  • The study expands the known breed prevalence of M-type phosphofructokinase deficiency.
  • It suggests a shared genetic origin for this erythroenzymopathy in closely related canine breeds.
  • Highlights the importance of genetic screening in related breeds for inherited disorders.