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.

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.

Last Updated: 15 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 15 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 15 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

Go To URL
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

Go To URL
Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes.
 

Author(s): G Ronquist, O Rudolphi, I Engström, A Waldenström

Journal: J. Intern. Med.. 2001 Jan;249(1):85-95.

 

To critically evaluate whether an altered calcium homeostasis in erythrocytes could be contributing to the symptomatology of the Tarui's disease, which is an inherited phosphofructokinase (PFK) deficiency of the muscle isoenzyme. PFK is a tetrameric enzyme with three different isoenzymes, ...

Last Updated: 22 Feb 2001

Go To URL

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.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
 

Status: Recruiting

Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency

 

Last Updated: 5 Apr 2016

Go to URL