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Prepared by: ZYRINE M.

SALOMON
Phosphofructokinase deficiency (Tarui disease)
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A muscular metabolic disorder, with an autosomal recessive inheritance pattern. This disease
is one of a group of metabolic muscle disorders that interferes with the processing of food (in
this case, carbohydrates) for energy production. The clinical features of Type VII are similar to
those of Type V with onset of more severe fatigue and muscle pain early in exercise.
Symptoms are evident in childhood. Type VII is caused by a deficiency of the
phosphofructokinase enzyme which is needed to facilitate the breakdown of glucose into
energy in muscle during exercise.
The body breaks down muscle (rhabdomyolysis) when trying to attain energy, which causes
symptoms such as muscle pain, cramping, fatigue and tenderness. The red protein
myoglobin is released and red-brown urine may be seen. In 1965, Tarui presented the first
description of phosphofructokinase (PFK) deficiency in 3 adult siblings with exercise
intolerance and easy fatigability.

What are the symptoms of phosphofructokinase deficiency?


The condition results in exercise intolerance, with pain, cramps and, occasionally, myoglobinuria (acute
muscle breakdown leading to rust-colored urine). Symptoms are very similar to those of phosphorylase
deficiency, but people with this disorder are less likely to experience the second wind phenomenon.
A carbohydrate meal typically worsens exercise capacity in this condition by lowering blood levels of fats,
which are the major muscle energy fuels for those with the disorder.A partial deficiency of
phosphofructokinase in the red blood cells results in the breakdown of those cells and an increase in
blood levels of bilirubin (a chemical found in red blood cells), although the person usually experiences no
symptoms.
What causes phosphofructokinase deficiency?
Phosphofructokinase deficiency is caused by a genetic defect in the phosphofructokinase enzyme, which
affects the breakdown of glucose (sugar).
Diagnostic Procedures:
Laboratory Studies:
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Serum creatine kinase (CK) values are usually increased in patients with Tarui disease
(glycogen-storage disease type VII).
Lactic acid does not increase following exercise.
Bilirubin levels may be elevated.
Reticulocyte count and reticulocyte distribution width (RDW) may be increased.
Urinalysis may reveal myoglobinuria, especially after exercise.

Imaging Studies:
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Brain imaging scans in patients with the infantile-onset subtype may show cortical atrophy
and ventricular dilatation.
Phosphorus-31 nuclear magnetic resonance spectroscopy (31 P-NMR S) of calf muscle using
a 4.7-Tesla MRI may be useful in making this diagnosis. During exercise, glycolytic
intermediates accumulate as phosphorylated monoesters that are pathognomonic of Tarui
disease. This study also shows the absence of lactic acid production

Electromyography (EMG) may reveal small-motor potentials of short duration consistent with
myopathic changes.
Echocardiography may reveal valvular thickening, and ECG may reveal an arrhythmia.
The ischemic forearm test is an important tool for the diagnosis of metabolic myopathies. The
test examines the metabolic pathways that provide energy for muscle function during
anaerobic exercise.

Muscle biopsy is necessary for microscopic and biochemical assay of PFK activity.
Treatment:

Drug therapy is not currently a component of the standard of care for Tarui disease (glycogenstorage disease type VII).
Specific medical treatment is not required for Tarui disease (glycogen-storage disease type VII).
However, patients are advised to avoid high-carbohydrate meals because they may exacerbate
the exercise intolerance

Nursing Considerations/interventions:

Instruct the patient to avoid vigorous exercise because it may lead to myoglobinuria.
Monitor renal function on a regular basis if a patient with Tarui disease (glycogen-storage disease
type VII) has myoglobinuria.
Monitor hemoglobin and reticulocyte counts as well.
If the patient has hyperbilirubinemia notify the physician for the patient to have ultrasound to
evaluate presence of gallstone
Monitor Heart rate continuously
Glucose or sucrose intake before exercise will exacerbate the muscle symptoms in patients with
Tarui disease
Carbohydrate intake increases the symptoms of exercise intolerance in Tarui disease
Encourage high protein diet

Learning Insights:
Tarui (TYPE VII) is caused by a deficiency of the phosphofructokinase enzyme which is needed to
facilitate the breakdown of glucose into energy in muscle during exercise.
The body breaks down muscle (rhabdomyolysis) when trying to attain energy, which causes symptoms
such as muscle pain, cramping, fatigue and tenderness. The red protein myoglobin is released and redbrown urine may be seen.
Diagnosis is by muscle biopsy, which will show a deficiency of muscle phosphofructokinase and a modest
accumulation of glycogen. Patients may also display a hemolytic anemia. Treatment primarily consists of
avoiding strenuous exercise. Some patients have been helped by a high protein diet. The enzyme
deficiency is due to abnormalities in the muscle phosphofructokinase gene and is inherited as an
autosomal recessive genetic disorder.
Type VII summary
Symptoms

Muscle pain and fatigue on


Muscle cramps and tenderness.

exercise.

Type VII summary


Secondary
symptoms

Myoglobinuria

Treatment

Avoid anaerobic exercise. Maintain healthy


diet,
increased protein may help.

Outlook

Good
with
activity.

avoidance

of

anaerobic