title: Inherited phosphofructokinase deficiency in an American cocker spaniel.
abstract: A 3-year-old female American Cocker Spaniel with a chronic hemolytic disorder and hemolytic crises was found to have M-type phosphofructokinase deficiency. This inherited erythroenzymopathy and myopathy is commonly diagnosed in English Springer Spaniels, but the family study of this Cocker Spaniel, although supporting an autosomal recessive mode of inheritance, did not reveal any English Springer Spaniel ancestors. Molecular genetic studies did, however, identify the same mutation in this dog as we previously reported in the English Springer Spaniel breed, suggesting that this mutation originated prior to the separation of these 2 breeds.
authors.affiliation: Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010.
authors.forename: U
authors.initials: U
authors.lastname: Giger
authors.forename: B F
authors.initials: BF
authors.lastname: Smith
authors.forename: C B
authors.initials: CB
authors.lastname: Woods
authors.forename: D F
authors.initials: DF
authors.lastname: Patterson
authors.forename: H
authors.initials: H
authors.lastname: Stedman
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics / Q000662:veterinary*; D000818:Animals; D001947:Breeding; D004283:Dog Diseases / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D004285:Dogs; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics / Q000662:veterinary; D009154:Mutation; D010375:Pedigree; D010732:Phosphofructokinase-1 / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D013577:Syndrome
chemical_list: D010732:Phosphofructokinase-1