Document Detail

Hereditary phosphofructokinase deficiency in wachtelhunds.
MedLine Citation:
PMID:  21311071     Owner:  NLM     Status:  MEDLINE    
Hereditary phosphofructokinase (PFK) deficiency was diagnosed in two Wachtelhund dogs and suspected in three related Wachtelhund dogs with exercise intolerance, hemolytic anemia, and pigmenturia. Severe, persistent reticulocytosis in light of only mild anemia together with hemoglobinuria after strenuous exercise suggested PFK deficiency. Low erythrocyte PFK activity together with low 2,3-diphosphoglycerate concentrations and a high hemoglobin-oxygen affinity confirmed the diagnosis. The PFK deficiency is due to a single missense mutation in the muscle-type PFK M-PFK gene in English springer and American cocker spaniels, whippets, and mixed-breed dogs; however, these PFK-deficient Wachtelhunds do not have the same PFK mutation.
Anna Hillström; Harold Tvedten; André Rowe; Urs Giger
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2011-02-10
Journal Detail:
Title:  Journal of the American Animal Hospital Association     Volume:  47     ISSN:  1547-3317     ISO Abbreviation:  J Am Anim Hosp Assoc     Publication Date:    2011 Mar-Apr
Date Detail:
Created Date:  2011-03-01     Completed Date:  2011-04-12     Revised Date:  2014-09-08    
Medline Journal Info:
Nlm Unique ID:  0415027     Medline TA:  J Am Anim Hosp Assoc     Country:  United States    
Other Details:
Languages:  eng     Pagination:  145-50     Citation Subset:  IM    
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MeSH Terms
Anemia, Hemolytic, Congenital / blood,  veterinary
Dog Diseases / blood,  genetics*
Erythrocytes / enzymology*
Genetic Predisposition to Disease
Phosphofructokinases / deficiency*
Grant Support
P40 RR002512/RR/NCRR NIH HHS; P40 RR002512-28/RR/NCRR NIH HHS
Reg. No./Substance:
EC 2.7.1 -/Phosphofructokinases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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