About glycogenosis type vii

What is glycogenosis type vii?

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Glycogen storage disease type VII (GSD VII) is characterized by weakness, pain and stiffness during exercise. GSD VII is caused by abnormalities in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme. This enzyme deficiency leads to a reduced amount of energy available to muscles during exercise. GSD VII is inherited as an autosomal recessive genetic disorder.

What are the symptoms for glycogenosis type vii?

Glycogenosis type vii is a disease caused due to lack of capacity to produce glucose. Due to this, the body craves for energy. There are various symptoms caused due to glycogenosis which are Tiredness, Nausea and Vomiting. The skin gets yellowish as in jaundice and the color of urine becomes reddish-brown, also known as myoglobinuria.

  • The symptoms of glycogenosis also include Anemia. Due to Anemia, there is a decrease in the count of red blood cells.
  • There is more amount of glycogen present in the muscle of the body.
  • There is also more amount of uric acid present in the blood, which is also known as hyperuricemia.
  • Having glycogenosis also induces muscle Weakness and loss of muscle tone. The joints in the body become curvy, showing signs of Weakness.
  • Moreover, there is a decrement in the intellect or logical thinking of the person.
  • Though glycogenosis is a rare disease, it mostly affects children at lower ages.
  • In some adults also it shows up while exercising they feel tired very soon.


Conditions
Anemia,Muscle cramps with exercise
Drugs
Lifestyle changes are used as a treatment,Cornstarch is included in the food,An increase in carbohydrate intake,Intravenous dose of glucose is provided
Symptoms
Fatigue,Low number of RBCs,Curving of joints,Obesity,Reddish-brown urine color,Loss of muscle tone,Mental disbalance to some extent

What are the causes for glycogenosis type vii?

Glycogenesis type vii is caused due to improper functioning of the enzyme responsible for glycogen breakdown.

  • The major cause of glycogenosis type vii is a mutation of the gene PKFM. This gene is responsible for the enzyme phosphofructokinase, which helps in the breakdown of glycogen into glucose.
  • The gene mutation disables the function of the enzyme.
  • As a result, the breakdown of the glucose process is halted.
  • The glycogen gets coagulated in the muscles and is unable to distribute glucose to the body.
  • This inability leaves the body lethargic and craving for energy.
  • As a result, there is a feeling of tiredness, a decrease in red blood cell count, more uric acid in the blood, enlargement of the liver, and obesity. There is also a decrease in muscle tone, and the joints in the body get curvy.
  • Glycogenosis type vii is also caused due to inheritance from parents. There is no other reason known for it.
  • It is caused when two defective genes are transferred from parent to child.
  • It might happen that there is one defective and another good gene gets in the child. In that case, the child becomes a carrier of the disease.
  • The chance that the child gets both defective genes is 25% with each pregnancy.


Conditions
Anemia,Muscle cramps with exercise
Drugs
Lifestyle changes are used as a treatment,Cornstarch is included in the food,An increase in carbohydrate intake,Intravenous dose of glucose is provided
Symptoms
Fatigue,Low number of RBCs,Curving of joints,Obesity,Reddish-brown urine color,Loss of muscle tone,Mental disbalance to some extent

What are the treatments for glycogenosis type vii?

In general, no specific treatment exists for glycogen storage diseases (GSDs)/glycogenosis type VII. However, certain treatments can help. They include,

  • Diet therapy: In some cases, diet therapy may be helpful. Meticulous adherence to a dietary regimen may reduce the liver size, prevent hypoglycemia, reduce symptoms, and allow growth and development in patients with GSDs.
  • Heavy exercise should be avoided: Avoid rigorous workouts to prevent muscle pain and cramps.
  • Avoid carbohydrates: Eating simple sugars (carbohydrates) should also be avoided because this can make the exercise intolerance worse.
  • Protein intake: Eating high amounts of protein during exercise may prevent symptoms.
  • Genetic counseling: It is recommended for individuals with GSD7 and their families.


Conditions
Anemia,Muscle cramps with exercise
Drugs
Lifestyle changes are used as a treatment,Cornstarch is included in the food,An increase in carbohydrate intake,Intravenous dose of glucose is provided
Symptoms
Fatigue,Low number of RBCs,Curving of joints,Obesity,Reddish-brown urine color,Loss of muscle tone,Mental disbalance to some extent

What are the risk factors for glycogenosis type vii?

Glycogenesis type VII is caused due to improper functioning of the enzyme responsible for glycogen breakdown.

Certain risk factors for developing this condition include,

  • Inheritance: Glycogenesis type VII is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. They however, not show signs and symptoms of the condition.
  • Mutations in the gene: Mutations in the PFKM gene cause Glycogenesis type VII. This gene is responsible for the enzyme phosphofructokinase, which helps in the breakdown of glycogen into glucose. The gene mutation disables the function of the enzyme. As a result, the breakdown of the glucose process is halted. The glycogen gets coagulated in the muscles and is unable to distribute glucose to the body.
  • There is a feeling of tiredness, a decrease in red blood cell count, more uric acid in the blood, enlargement of the liver, and obesity.
  • There is also a decrease in muscle tone, and the joints in the body get curvy.


Conditions
Anemia,Muscle cramps with exercise
Drugs
Lifestyle changes are used as a treatment,Cornstarch is included in the food,An increase in carbohydrate intake,Intravenous dose of glucose is provided
Symptoms
Fatigue,Low number of RBCs,Curving of joints,Obesity,Reddish-brown urine color,Loss of muscle tone,Mental disbalance to some extent

Is there a cure/medications for glycogenosis type vii?

No specific cure/medications exists for glycogen storage diseases (GSDs)/glycogenosis type VII. However, certain therapies and treatments can help. They include,

  • Diet therapy: In some cases, diet therapy may be helpful. Meticulous adherence to a dietary regimen may reduce the liver size, prevent hypoglycemia, reduce symptoms, and allow growth and development in patients with GSDs.
  • Heavy exercise should be avoided: Avoid rigorous workouts to prevent muscle pain and cramps.
  • Avoid carbohydrates: Eating simple sugars (carbohydrates) should also be avoided because this can make the exercise intolerance worse.
  • Protein intake: Eating high amounts of protein during exercise may prevent symptoms.
  • Genetic counseling: It is recommended for individuals with GSD7 and their families.


Conditions
Anemia,Muscle cramps with exercise
Drugs
Lifestyle changes are used as a treatment,Cornstarch is included in the food,An increase in carbohydrate intake,Intravenous dose of glucose is providedacin
Symptoms
Fatigue,Low number of RBCs,Curving of joints,Obesity,Reddish-brown urine color,Loss of muscle tone,Mental disbalance to some extent

Video related to glycogenosis type vii