Phosphofructokinase Deficiency

Common Name(s)

Phosphofructokinase Deficiency

Phosphofructokinase deficiency is a rare genetic condition resulting from a mutation or error in a person’s DNA or genes. Phosphofructokinase deficiency causes dysfunction in the body’s ability to process carbohydrates. Typically, cells in our body, including blood cells and muscle cells, convert the carbohydrates that we consume, such as sugar, into energy that allows them to function. A person who has a phosphofructokinase deficiency cannot convert these carbohydrates into energy and which leads to symptoms including muscle cramps, muscle weakness, and dark urine. Doctors can diagnose phosphofructokinase deficiency through a muscle biopsy that can tell them the amount of the phosphofructokinase enzyme present in the muscle. Treatment of phosphofructokinase deficiency includes avoiding intensive exercise and potentially diet changes.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Phosphofructokinase Deficiency" for support, advocacy or research.

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 8 Mar 2010

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Phosphofructokinase Deficiency" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Phosphofructokinase Deficiency" returned 14 free, full-text research articles on human participants. First 3 results:

Phosphofructokinase deficiency impairs ATP generation, autophagy, and redox balance in rheumatoid arthritis T cells.
 

Author(s): Zhen Yang, Hiroshi Fujii, Shalini V Mohan, Jorg J Goronzy, Cornelia M Weyand

Journal: J. Exp. Med.. 2013 Sep;210(10):2119-34.

 

In the HLA class II-associated autoimmune syndrome rheumatoid arthritis (RA), CD4 T cells are critical drivers of pathogenic immunity. We have explored the metabolic activity of RA T cells and its impact on cellular function and fate. Naive CD4 T cells from RA patients failed to metabolize ...

Last Updated: 24 Sep 2013

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The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency.
 

Author(s): Richard L Sabina, Anders Waldenström, Gunnar Ronquist

Journal: Haematologica. 2006 May;91(5):652-5.

 

Erythrocyte membrane leakage of Ca2+ in familial phosphofructokinase deficiency results in a compensatory increase of Ca2+-ATPase activity that depletes ATP and leads to diminished erythrocyte deformability and a higher rate of hemolysis. Lowered ATP levels in circulating erythrocytes ...

Last Updated: 3 May 2006

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Improvement of hemolysis in muscle phosphofructokinase deficiency by restriction of exercise.
 

Author(s): H Toyoda, T Nakase, M Tomeoku, K Morita, M Kato, T Murata, A Ono, M Kuwajima, N Kono

Journal: Intern. Med.. 1996 Mar;35(3):222-6.

 

A 29-year-old woman with muscle phosphofructokinase (PFK) deficiency had exercise intolerance, painful cramps, elevation of muscle enzyme levels in the serum and compensated hemolysis. After the restriction of exercise, the creatine kinase level and indirect bilirubin level decreased, ...

Last Updated: 25 Sep 1996

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Phosphofructokinase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.