Glutathione is a combination of three amino acids: cysteine, glutamic acid, and glycine. Your liver naturally makes this substance in your body. And it helps with many bodily functions like making and repairing tissue, creating needed proteins and chemicals, and supporting proper immune system function. Finally, Glutathione is used to help with Aging and Health & Beauty.

What is Glutathione Synthetase Deficiency?

In general, Glutathione synthetase deficiency is an inherited metabolic disorder that causes your body to not be able to produce enough glutathione. As a result, patients may have symptoms that are mild, moderate, or severe. This disorder is caused by genetic changes like mutations in the GSS gene. Further, it is passed along in an autosomal recessive manner. Usually, the first sign that may cause a doctor to think you have this disorder is metabolic acidosis. In fact, mild cases of Glutathione synthetase deficiency show signs and symptoms like:

• Hemolytic anemia: Breaking down red blood cells to quickly and not replacing them fast enough.
• Shortness of breath.
• Nausea.
• Lightheadedness.
• Fatigue.
• Splenomegaly: abnormally large spleen.

On the other hand, signs and symptoms of moderate Glutathione Synthetase Deficiency includes:

• Hemolytic anemia.
• Buildup of 5-oxoproline in the urine (5-oxoprolinuria).
• Metabolic acidosis: too much acid in your body.
• Nausea.
• Vomiting.
• Fatigue.

Finally, severe cases of this disorder have all signs and symptoms of mild and moderate cases plus:

• Neurological issues: seizures, trouble with coordinating movements (ataxia), and intellectual disabilities.
• In children: developmental delay (sitting and walking), speech delay (learning to talk), spasticity (stiff muscles), and repeated bacterial infections.
• In adults: retinal dystrophy (vision problems).
• Usually, moderate and severe cases show signs and symptoms during infancy. However, mild cases go unnoticed until later in life.