We report here on a new missense mutation associated with PFK deficiency in Wachtelhunds. Coding regions of the PFKM gene were amplified from genomic DNA and/or cDNA reverse-transcribed from RNA of EDTA blood of PFK-deficient and clinically healthy Wachtelhunds and control dogs. The amplicons ...
Phosphofructokinase deficiency Phosphofructokinase deficiencyClassification & external resources ICD-10 E74.0 ICD-9 271.0 OMIM 232800 DiseasesDB 5314 eMedicine
This is the first report of PFK deficiency in Whippet dogs. In addition to causing hemolysis and exertional myopathy, heart disease may be a prominent clinical component of PFK deficiency in this breed and has not been previously recognized in PFK-deficient English Springer Spaniels....
In vivo 31phosphorus nuclear magnetic resonance spectroscopy (P-NMR) of the anterior tibialis muscle was used to investigate the metabolic myopathy of inherited muscle-type phosphofructokinase (PFK) deficiency in four (homozygous) dogs who had mild exercise intolerance, rare muscle cramps, increased ...
Phosphofructokinase deficiencyHaematologic and serum clinical chemical values were compared from five to nine phosphofructokinase (PFK)-deficient (when not in haemolytic crisis) and five normal adult English springer spaniel dogs. Affected dogs had macrocytic hypochromic compensated haemolytic anaemias (...
Nonspherocytic haemolytic anaemia due to phosphofructokinase deficiency in an English Springer Spanielsymptoms, enzyme deficiencies, dogs, phosphofructokinase, hemolytic anemia, breedsA five-year-old female English Springer Spaniel was evaluated for chronic episodic anaemia, pigmenturia and icterus. There ...
1999. In vivo determi- nation of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency. Muscle Nerve 22: 621-627.McCully K, Chance B, Giger U. In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency. Muscle Nerve. 1999;...
In vivo 31 phosphorus nuclear magnetic resonance spectroscopy (P-NMR) on the anterior tibialis muscle was used to investigate the metabolic myopathy of inherited muscle-type phosphofructokinase (PFK) deficiency in four (homozygous) dogs who had mild exercise intolerance, rare muscle cramps, increased ...
This is the first report of PFK deficiency in Whippet dogs. In addition to causing hemolysis and exertional myopathy, heart disease may be a prominent clinical component of PFK deficiency in this breed and has not been previously recognized in PFK‐deficient English Springer Spaniels.Karen Gerber...