Glutathione deficiency, also known as glutathione synthetase deficiency, is a disorder that prevents the body from producing glutathione, a molecule that is made up of three amino acids and that is essential in maintaining the normal function of the body's immune system. Glutathione prevents cell damage by destroying harmful or unstable molecules produced during the energy process. It also aids in building deoxyribonucleic acid (DNA) and protein and plays a crucial role in processing medications and carcinogens that might enter the body. The deficiency primarily caused by a mutation or series of mutations in the glutathione synthetase gene. The condition can be heredity, but metabolic disorders such as diabetes and various congenital conditions also might cause a deficiency.
Glutathione deficiency occurs in of three stages: mild, moderate and severe. Some initial symptoms of glutathione deficiency — vomiting, diarrhea, anemia and abdominal pain — are the same as those of other diseases, such as multiple sclerosis or vitamin B12 deficiency. When glutathione deficiency occurs, a compound called 5-oxoproline builds up in the blood, urine and spinal fluid. This condition is known as 5-oxprolinuria. Other symptoms include hemolytic anemia caused by the destruction of red blood cells and metabolic acidosis resulting from a buildup of lactic acid in the blood, urine and spinal fluid. Moderate glutathione deficiency symptoms are the same mild symptoms but are considered more serious because they occur shortly after birth.
Severe symptoms of glutathione deficiency are neurological disorders such as psychomotor retardation, which is characterized by a generalized delay of physical response, movement and speech. Seizures, loss of coordination and intellectual impairment also might occur. Another less common symptom is recurring bacterial infections in some severe cases.
Glutathione deficiency is treated primarily by administering dosages of a sodium citrate and citric acid mixture to correct metabolic acidosis and antioxidant vitamins E and C. This might be enough to restore glutathione levels, depending on how early the deficiency is diagnosed. Alpha-lipoic acid and n-acetylcysteine (NAC) also have been used in the treatment of the deficiency. Alpha-lipoic acid is an antioxidant considered to be more effective than vitamins E and C. It is believed that NAC increases low glutathione and cysteine levels in the leukocytes of patients.
Though it is a rare disorder, glutathione deficiency is a chronic, life-threatening condition. Regular, periodic follow-up with a metabolic specialist usually is required after treatment. Patients with a mild or moderate case usually can live with the condition under the supervision of a doctor. The prognosis for patients with severe deficiency is less optimistic. Even with treatment, patients still might be left severely mentally retarded and/or experience seizures and neurological deterioration.