Phosphofructokinase deficiency Phosphofructokinase deficiencyClassification & external resources ICD-10 E74.0 ICD-9 271.0 OMIM 232800 DiseasesDB 5314 eMedicine
Giger, "In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructoki- nase deficiency," Muscle Nerve 22, 621-627 (1999).McCully K, Chance B, Giger U. In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency. Muscle ...
In normal dogs, a similar isoenzymic distribution pattern exists except in the erythrocytes where the PFK tetramers consist of an admixture of PFK-M and PFK-P subunits. As in humans, PFK deficiency was found to be a deficiency of the PFK-M subunits, and the erythrocytic hybrids consisted ...
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 ...
Dogs homozygously affected with muscle-type phosphofructokinase (PFK) deficiency had about 20% of normal erythrocyte PFK activity and exhibited a compensated haemolytic anaemia. Erythrocyte glucose-6-phosphate and fructose-6-phosphate concentrations were increased and dihydroxyacetone phosphate and 2,3-bis...
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 (...
1. 1. Erythrocytes in whole blood samples from dogs with phosphofructokinase (PFK) deficiency had lower 2,3-diphosphoglycerate (2,3-DPG) concentrations, higher ATP concentrations, and were more alkaline fragile than normal canine erythrocytes. 2. 2. Reticulocytes from a PFK-deficient dog ...
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 ...
Giger, "In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructoki- nase deficiency," Muscle Nerve 22, 621-627 (1999).Giger U, Argov Z, Schnall M, Bank WJ, Chance B (1988a) Metabolic myopathy in canine muscle-type phosphofructokinase deficiency. Muscle Nerve ...
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...