About Gamma-glutamyl transpeptidase deficiency

What is Gamma-glutamyl transpeptidase deficiency?

Gamma-glutamyl transpeptidase (GGT) deficiency is a rare inherited disorder caused by a mutation in the GGT1 gene. This gene provides instructions for making an enzyme called gamma-glutamyl transpeptidase, which is involved in the breakdown of certain proteins. People with GGT deficiency have reduced levels of this enzyme, which can lead to a buildup of certain proteins in the body. Symptoms of GGT deficiency can include seizures, intellectual disability, and movement problems.

What are the symptoms of Gamma-glutamyl transpeptidase deficiency?

Symptoms of Gamma-glutamyl transpeptidase deficiency can vary depending on the severity of the deficiency. Common symptoms include:

-Fatigue
Muscle weakness
Joint pain
Abdominal pain
Nausea
Vomiting
Diarrhea
Weight loss
Anemia
Liver dysfunction
Kidney dysfunction
Neurological problems
Growth retardation
Developmental delays

What are the causes of Gamma-glutamyl transpeptidase deficiency?

Gamma-glutamyl transpeptidase (GGT) deficiency is a rare genetic disorder caused by mutations in the GGT1 gene. These mutations lead to a decrease in the activity of the enzyme GGT, which is responsible for breaking down certain proteins and amino acids. This deficiency can lead to a variety of symptoms, including poor growth, intellectual disability, seizures, and liver and kidney problems.

What are the treatments for Gamma-glutamyl transpeptidase deficiency?

The treatments for Gamma-glutamyl transpeptidase deficiency depend on the underlying cause. Treatment may include dietary changes, medications, and lifestyle modifications. Dietary changes may include avoiding foods high in glutamate, such as processed meats, MSG, and certain types of fish. Medications may include anticonvulsants, antacids, and antibiotics. Lifestyle modifications may include avoiding alcohol and smoking, exercising regularly, and managing stress. In some cases, a liver transplant may be necessary.

What are the risk factors for Gamma-glutamyl transpeptidase deficiency?

1. Genetic mutations: Mutations in the GGT1 gene can cause gamma-glutamyl transpeptidase deficiency.

2. Age: Gamma-glutamyl transpeptidase deficiency is more common in infants and young children.

3. Family history: If a family member has gamma-glutamyl transpeptidase deficiency, there is an increased risk of developing the condition.

4. Certain medications: Certain medications, such as anticonvulsants, can increase the risk of gamma-glutamyl transpeptidase deficiency.

5. Alcohol use: Excessive alcohol use can increase the risk of gamma-glutamyl transpeptidase deficiency.

Is there a cure/medications for Gamma-glutamyl transpeptidase deficiency?

At this time, there is no known cure for Gamma-glutamyl transpeptidase deficiency. However, medications may be prescribed to help manage the symptoms of the condition. These medications may include anticonvulsants, anti-inflammatory drugs, and muscle relaxants. Additionally, dietary modifications may be recommended to help reduce the symptoms of the condition.