Dogs suffering from PFK deficiency display hemolytic anemia (breakdown of red blood cells) especially with alkaline blood. Barking or panting, rigorous exercising, or high environmental temperature may trigger the clinical signs by increasing the body's pH value. This may lead to a hemolytic crisis...
Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria. Currently, there is no specific treatment ...
Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. A girl with congenital limb weakness, mental retardation, and corneal ulceration died with respiratory insufficiency at age 4 years. Histochemistry of musc... MJ Danon,S Carpenter,JR Manaligod,......
g) and turnover rate (Supplementary Fig.5g, h) of PFKP in 293T cells andTRIM21−/−mouse embryonic fibroblasts (MEFs). In addition, the effect of TRIM21 depletion (Fig.5h, i) or deficiency (Fig.5j, k) on the ubiquitylation and degradation of PFKP was abrogated ...
The patient improved after treatment with dantrolene and a low carbohydrate diet. Genetic testing is pending. Conclusion: Phosphofructokinase deficiency can be associated with malignant hyperthermia. This is the first case reported in the literature....
Riboflavin also had a slightly stimulatory effect upon flavokinase activity. Similarities between riboflavin deficiency and thyroid hormone deficiency were noted with respect to the hepatic levels of FAD, the activity of several flavoprotein enzymes, and the response to correction of the deficiency. The...