Inherited phosphofructokinase deficiency in an American cocker spaniel
Giger, U.; Smith, B.F.; Woods, C.B.; Patterson, D.F.; Stedman, H.
Journal of the American Veterinary Medical Association 201(10): 1569-1571
1992
ISSN/ISBN: 0003-1488 PMID: 1289336 Document Number: 390011
A 3-year-old female American Cocker Spaniel with a chronic haemolytic disorder and haemolytic 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 the authors previously reported in the English Springer Spaniel breed, suggesting that this mutation originated prior to the separation of these 2 breeds.