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Phosphofructokinase Deficiency

What is Phosphofructokinase Deficiency?

Phosphofructokinase Deficiency is a metabolic disorder causing muscle cramps and weakness during exercise.

 

Phosphofructokinase Deficiency is a metabolic disorder causing muscle cramps and weakness during exercise.
Acknowledgement of Phosphofructokinase Deficiency has not been added yet.
Synonyms for Phosphofructokinase Deficiency has not been added yet.
Cause of Phosphofructokinase Deficiency has not been added yet.
The presenting features are fatigue and pain with exercise. There may be nausea and vomiting too. This usually starts in childhood and is worse after moderate or intense exercise. Myoglobinuria presents as dark urine and severe muscle cramps may follow vigorous exercise. * Carbohydrate-rich meals exacerbate the exercise intolerance. This is because glucose causes a reduction in circulating levels of free fatty acids that can act as an alternative substrate to glucose.5 * Patients with the late-onset form may have fixed muscle weakness. * The infantile form presents in the 1st year of life with death before the 4th birthday. Blindness and psychomotor retardation may be the presenting symptoms of the infantile-onset type. * The late-onset variant is manifest during later adulthood with progressive limb weakness but no myoglobinuria or cramps.
Diagnosis of Phosphofructokinase Deficiency has not been added yet.
Diagnostic tests of Phosphofructokinase Deficiency has not been added yet
Treatments of Phosphofructokinase Deficiency has not been added yet.
Prognosis of Phosphofructokinase Deficiency has not been added yet.
Tips or Suggestions of Phosphofructokinase Deficiency has not been added yet.
References of Phosphofructokinase Deficiency has not been added yet.
Hello Created by sweetbttrfly68
Last updated 21 Mar 2009, 04:13 AM

Posted by VideoProVA
21 Mar 2009, 04:13 AM

I would be happy to discuss my PFK deficiency with you...we can do it here or at my direct email address which I would provide upon request. Dan

Posted by sweetbttrfly68
20 Mar 2009, 05:43 PM

Trying to find others who have Tauri. I would love to hear from others.

Research Created by VideoProVA
Last updated 18 Feb 2009, 05:02 PM

Posted by VideoProVA
18 Feb 2009, 05:02 PM

I was just wondering if anyone knew of other research being done in this field other than that of Dr. Ron Haller Neuromuscular Center Institute for Exercise and Environmental Medicine Presbyterian Hospital of Dallas

Reserach Created by VideoProVA
Last updated 18 Feb 2009, 05:01 PM

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Hello

Created by sweetbttrfly68 | Last updated 21 Mar 2009, 04:13 AM

Research

Created by VideoProVA | Last updated 18 Feb 2009, 05:02 PM

Reserach

Created by VideoProVA | Last updated 18 Feb 2009, 05:01 PM


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