Glutathione deficiency is a disorder that prevents the body from producing glutathione, which is essential for the immune system and preventing cell damage. It can be hereditary or caused by metabolic disorders, and symptoms range from mild to severe, including neurological disorders. Treatment involves administering a blend of sodium citrate and citric acid, antioxidant vitamins, and other supplements. Regular follow-up with a metabolic specialist is necessary, and the prognosis for severe cases is less optimistic.
Glutathione deficiency, also known as glutathione synthetase deficiency, is a disorder that prevents the body from producing glutathione, a molecule made up of three amino acids and which is essential for 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 helps in building deoxyribonucleic acid (DNA) and proteins and plays a crucial role in processing drugs and carcinogens that might enter the body. Deficiency caused primarily by a mutation or series of mutations in the glutathione synthetase gene. The condition can be hereditary, but metabolic disorders such as diabetes and various congenital conditions could also cause a deficiency.
Glutathione deficiency occurs in three stages: mild, moderate, and severe. Some initial symptoms of glutathione deficiency – vomiting, diarrhea, anemia and abdominal pain – are the same as in other diseases, such as multiple sclerosis or vitamin B12 deficiency. When a 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 red blood cell destruction and metabolic acidosis resulting from a buildup of lactic acid in the blood, urine, and spinal fluid. Moderate symptoms of glutathione deficiency are the same as mild symptoms but are considered more severe because they occur shortly after birth.
Serious symptoms of glutathione deficiency are neurological disorders such as psychomotor retardation, which is characterized by a generalized delay in physical response, movement and speech. You may also experience seizures, loss of coordination, and intellectual disability. Another less common symptom is recurring bacterial infections in some severe cases.
Glutathione deficiency is treated primarily by administering dosages of a blend of sodium citrate and citric acid to correct metabolic acidosis and the antioxidant vitamins E and C. This may be sufficient to restore glutathione levels, depending on how early diagnosed with deficiency. Alpha-lipoic acid and n-acetylcysteine (NAC) have also been used in the treatment of deficiency. Alpha-lipoic acid is an antioxidant that is considered to be more effective than vitamins E and C. NAC is thought to increase low levels of glutathione and cysteine in patients’ leukocytes.
Although a rare disease, glutathione deficiency is a chronic and life-threatening condition. After treatment, regular and periodic follow-up with a metabolic specialist is usually necessary. Patients with a mild to moderate case can usually live with the condition under the supervision of a doctor. The prognosis for patients with severe deficiency is less optimistic. Even with treatment, patients could remain severely mentally retarded and/or experience seizures and neurological deterioration.
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