About Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)

What is Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)?

Genetics of Tarui Disease is an autosomal recessive disorder caused by mutations in the PFKM gene. This gene provides instructions for making an enzyme called phosphofructokinase (PFK). This enzyme is involved in the breakdown of a sugar molecule called glucose, which is the body's main source of energy. Mutations in the PFKM gene reduce or eliminate the activity of the PFK enzyme, which prevents the body from breaking down glucose and leads to a buildup of a sugar called glycogen in the body's tissues. This buildup of glycogen causes the signs and symptoms of Tarui Disease.

What are the symptoms of Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)?

The symptoms of Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency) include:

- Muscle weakness
- Exercise intolerance
- Muscle cramps
- Muscle pain
- Fatigue
- Abnormal heart rhythms
- Low blood sugar
- Abnormal liver function tests
- Abnormal blood clotting
- Abnormal blood sugar levels
- Abnormal levels of certain enzymes in the blood
- Abnormal levels of certain proteins in the blood
- Abnormal levels of certain hormones in the blood
- Abnormal levels of certain minerals in the blood
- Abnormal levels of certain vitamins in the blood
- Abnormal levels of certain amino acids in the blood
- Abnormal levels of certain lipids in the blood
- Abnormal levels of certain fatty acids in the

What are the causes of Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)?

The cause of Tarui Disease is a genetic mutation in the PFKM gene, which is responsible for producing the enzyme phosphofructokinase (PFK). This enzyme is essential for the breakdown of glucose and other sugars in the body. Mutations in the PFKM gene lead to a deficiency of the enzyme, which results in an inability to break down glucose and other sugars, leading to the accumulation of glycogen in the body. This accumulation of glycogen is what causes the symptoms of Tarui Disease.

What are the treatments for Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)?

1. Dietary Therapy: Dietary therapy is the mainstay of treatment for Tarui Disease. This includes a low-glycemic diet, which helps to reduce the amount of glycogen stored in the body. Additionally, a high-protein diet may be recommended to help maintain muscle mass.

2. Enzyme Replacement Therapy: Enzyme replacement therapy is a form of treatment that involves the administration of a recombinant form of the enzyme phosphofructokinase. This enzyme helps to break down glycogen and can help to reduce the symptoms of Tarui Disease.

3. Gene Therapy: Gene therapy is a form of treatment that involves the introduction of a healthy gene into the body to replace the defective gene that causes Tarui Disease. This therapy is still in the early stages of development and is not yet available for clinical use.

4. Liver Trans

What are the risk factors for Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)?

1. Family history of Tarui Disease
2. Being of Japanese descent
3. Being male
4. Having a mutation in the PFKM gene
5. Having a mutation in the PFKL gene
6. Having a mutation in the PFKP gene
7. Having a mutation in the PFKFB3 gene
8. Having a mutation in the PFKFB4 gene
9. Having a mutation in the PFKFB1 gene
10. Having a mutation in the PFKFB2 gene

Is there a cure/medications for Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)?

There is no cure for Tarui Disease, but there are medications and treatments available to help manage the symptoms. These include dietary modifications, enzyme replacement therapy, and medications to help control blood sugar levels. Additionally, physical therapy and exercise can help improve muscle strength and endurance.