About Glutathione Synthetase Deficiency

What is Glutathione Synthetase Deficiency?

Glutathione synthetase deficiency is a rare inherited disorder that affects the body's ability to produce the antioxidant glutathione. Glutathione is an important molecule that helps protect cells from damage caused by free radicals. People with this disorder have a deficiency of the enzyme glutathione synthetase, which is responsible for the production of glutathione. Symptoms of this disorder can include seizures, developmental delays, and movement disorders. Treatment typically involves dietary modifications and supplementation with glutathione precursors.

What are the symptoms of Glutathione Synthetase Deficiency?

The symptoms of Glutathione Synthetase Deficiency can vary depending on the severity of the condition, but may include:

-Neurological problems such as seizures, developmental delays, and intellectual disability

-Growth delays

-Hearing loss

-Vision problems

-Liver and kidney problems

-Muscle weakness

-Frequent infections

-Fatigue

-Jaundice

-Anemia

-Skin rashes

-Gastrointestinal problems such as diarrhea and vomiting

What are the causes of Glutathione Synthetase Deficiency?

Glutathione synthetase deficiency is a rare inherited disorder caused by mutations in the GSS gene. This gene provides instructions for making an enzyme called glutathione synthetase, which is involved in the production of glutathione. Glutathione is an important antioxidant that helps protect cells from damage. Mutations in the GSS gene reduce or eliminate the activity of glutathione synthetase, leading to a decrease in glutathione levels and an increased risk of cell damage.

What are the treatments for Glutathione Synthetase Deficiency?

1. Dietary supplementation with cysteine, glycine, and glutamine: These three amino acids are the building blocks of glutathione, and supplementing with them can help to replenish the body’s stores of glutathione.

2. Antioxidant therapy: Antioxidants such as vitamin C, vitamin E, and N-acetylcysteine (NAC) can help to reduce oxidative stress and protect cells from damage.

3. Enzyme replacement therapy: This involves injecting a synthetic form of the enzyme glutathione synthetase into the body, which can help to restore normal levels of glutathione.

4. Gene therapy: This involves introducing a healthy copy of the gene that codes for glutathione synthetase into the body, which can help to restore normal levels of the enzyme.

What are the risk factors for Glutathione Synthetase Deficiency?

1. Genetic predisposition: Glutathione synthetase deficiency is an inherited disorder caused by mutations in the GSS gene.

2. Exposure to toxins: Exposure to certain toxins, such as lead, mercury, and cadmium, can increase the risk of developing glutathione synthetase deficiency.

3. Age: Glutathione synthetase deficiency is more common in infants and young children.

4. Certain medications: Certain medications, such as acetaminophen, can increase the risk of developing glutathione synthetase deficiency.

Is there a cure/medications for Glutathione Synthetase Deficiency?

At this time, there is no cure for Glutathione Synthetase Deficiency. However, there are medications that can help manage the symptoms of the condition. These medications include antioxidants, such as N-acetylcysteine, and medications to help reduce inflammation, such as corticosteroids. Additionally, dietary modifications, such as avoiding foods high in sulfur, may be beneficial.