About glycogen storage disease vii

What is glycogen storage disease 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 glycogen storage disease vii?

There are four types of GSD7:

Childhood (Classic) GSD7 This is the most common form of GSD7 and usually begins in childhood with symptoms including:

  • Muscle Weakness, pain and stiffness during exercise

Other symptoms can include:

  • Nausea
  • Vomiting
  • Dark, reddish brown-colored urine (myoglobinuria)
  • Yellowing of the skin (jaundice)
  • Low number of red blood cells (Anemia)
  • Large amount of glycogen in the muscle
  • Break down of muscle tissue (rhabdomyolysis)
  • High amount of uric acid in the blood (hyperuricemia)

Symptoms usually go away after rest.

Infant GSD7 This rare type of GSD7 occurs in babies. Symptoms include:

  • Loss of muscle tone (hypotonia)
  • Muscle Weakness (including in the heart, called cardiomyopathy)
  • Breathing problems that can lead to death before age 1 year
  • Curving of the joints (arthrogryposis)
  • Intellectual disability

Late-onset (adult) GSD7 This form of GSD7 happens in adults who experience only muscle Weakness and pain. They may have some muscle Weakness and Tiredness in childhood.

Hemolytic GSD7 People with hemolytic GSD7 do not have muscle symptoms but have Anemia due to break down of red blood cells.

What are the causes for glycogen storage disease vii?

GSD7 is caused by harmful changes (mutations) in the gene for muscle phosphofructokinase (PFKM). This leads to problems with the function of phosphofructokinase enzyme, the protein that breaks down glycogen to glucose. This lowered enzyme activity results in a decreased amount of energy for muscles to use during exercise. This leads to muscle pain and cramps.

GSD7 is inherited in an autosomal recessive manner. Recessive genetic conditions occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but will usually not show symptoms. The chance for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The chance to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for glycogen storage disease vii?

Heavy exercise should be avoided to prevent muscle pain and cramps. Eating simple sugars (carbohydrates) should also be avoided because this can make exercise intolerance worse. Eating high amounts of protein during exercise may prevent symptoms.

Genetic counseling is recommended for individuals with GSD7 and their families.

What are the risk factors for glycogen storage disease vii?

Glycogen storage disease vii is a hereditary disorder. Most cases are found in children. It is caused due to transfer of genes from the parents. The cause of GSD is the lack of an enzyme responsible for the breakdown of glycogen.
Breakdown of glycogen into glucose is necessary for providing energy to the body. The Phosphofructokinase enzyme is responsible for the breaking down of glycogen into glucose. The lack of glucose in the body induces a low blood sugar level which is again a critical condition.

Risk Factors

  • The genes are responsible for the transfer of disorder.
  • The disorder follows an autosomal recessive process. It means to develop a disorder both the infected part should be transferred.
  • Likewise, if a child develops GSD 7 disorder, he must have got two infected genes.
  • In case a child has got one infected and another good gene he/she may become a carrier of the disease.
  • The chances that a child gets both infected genes and develops a disorder is 25% with each pregnancy.
  • It is a 50% chance with each pregnancy that the child becomes a carrier of the disease. The chance that a child gets good genes also stands at 25%.


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 glycogen storage disease vii?

Glycogen storage disease vii is a hereditary disorder. It is transferred from the genes of the parent. For getting infected by the disorder the parents must have a history of the disorder. Glycogen is unable to break down into glucose and gets stored in the liver. The disorder gets enlarged liver and is also responsible for obesity.

  • The disorder is not curable but controllable.
  • Lifestyle and food changes can help maintain the amount of sugar level needed in the blood.
  • In some cases, it is very difficult and the sugar level goes low. To maintain it a dose of intravenous glucose is given.
  • Protein intake is increased and the intensity of daily exercise is lowered. Carbohydrate intake is lowered when GSD 7 is diagnosed.
  • The storage of glycogen due to which the body is deprived of glucose. The lack of glucose in the body weakens the immune system and lowers the sugar level in blood.
  • Blood sugar is again a non-curable type of illness.
  • It is only controllable with changes in lifestyle and food habits.
  • Overall, glycogen storage disease vii can’t be cured with any medications or drugs.


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

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