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.
What Are the Benefits of Glutathione?
Primarily, Glutathione helps with nerve damage caused by cancer drug cisplatin. However, other benefits include helping treat conditions, such as:
- Lyme disease.
- Alzheimer's disease.
- Alcoholism.
- Osteoarthritis.
- Asthma.
- Cataracts.
- Clogged arteries (atherosclerosis).
- Colitis.
- Diabetes.
- High cholesterol.
- Chronic fatigue syndrome.
- Hepatitis.
- Liver disease.
- Parkinson's disease.
- Heart disease.
- Glaucoma.
What Are the Side Effects of Glutathione?
There is not a lot of information regarding side effects of Glutathione used by mouth, shot/IV, skin, or inhalation. However, some people experience allergic reactions like rashes, cramping, and bloating.
Who Should Take Caution with Glutathione?
In general, it is safe for people to take Glutathione. However, pregnant and breast-feeding women as well as people with asthma should take caution when using this substance. There is not enough evidence to say if it is safe for these groups of people.
Are There Any Interactions Between Glutathione and Other Drugs?
Glutathione has no known interactions.
How Much Glutathione Should You Take a Day?
Glutathione is mainly used as an IV or shot to treat nerve damage caused by cancer drug cisplatin. The recommended dosage is as follows:
- 1.5 to 3 grams/m2 given 15-20 minutes right before chemotherapy.
- 1.5 grams/m2 given over 15 minutes before chemotherapy and 600mg on days 2 through 5.
