| Hereditary phosphofructokinase deficiency in wachtelhunds. | |
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MedLine Citation:
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PMID: 21311071 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Anna Hillström; Harold Tvedten; André Rowe; Urs Giger |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2011-02-10 |
Journal Detail:
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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:
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Created Date: 2011-03-01 Completed Date: 2011-04-12 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 0415027 Medline TA: J Am Anim Hosp Assoc Country: United States |
Other Details:
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Languages: eng Pagination: 145-50 Citation Subset: IM |
Affiliation:
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University Veterinary Hospital, Swedish University of Agricultural Sciences, Uppsala, Sweden. anna.hillstrom@uds.slu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Hemolytic, Congenital
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blood,
veterinary Animals Dog Diseases / blood, genetics* Dogs Erythrocytes / enzymology* Female Genetic Predisposition to Disease Phosphofructokinases / deficiency* |
| Grant Support | |
ID/Acronym/Agency:
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P40 RR002512-28/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1 -/Phosphofructokinases |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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