Numerous symptoms are associated with glutathione deficiency. According to the Genetics Home Reference website, glutathione synthetase deficiency is a disorder that prevents the production of glutathione -- an important molecule involved in numerous biological processes. Glutathione helps prevent damage to cells, helps process medication and carcinogens, and builds DNA and certain proteins. Glutathione deficiency-related symptoms can be mild, moderate or severe, depending on the specific gene mutations that cause the condition.
Metabolic Acidosis
Metabolic acidosis may be a symptom of glutathione deficiency. According to the University of Maryland Medical Center website, metabolic acidosis is a condition in which there is too much acid in a person's body fluids. In most cases of glutathione deficiency, the body generates excess acid or a person's kidneys do not remove enough acid from the body. Along with glutathione deficiency, metabolic acidosis may be caused by diabetes, lactic acid accumulation, kidney disease, aspirin poisoning or severe dehydration. Metabolic acidosis, while a symptom, can also cause other symptoms, including rapid breathing, confusion, lethargy and, in severe cases, shock or death. The UMMC states that a person with a moderate case of glutathione deficiency may show signs of metabolic acidosis and that treating the underlying cause of metabolic acidosis -- the glutathione deficiency -- is the appropriate course of action.
Hemolytic Anemia
Hemolytic anemia, or the destruction of red blood cells, is a common symptom associated with mild glutathione synthetase deficiency. The National Heart Lung and Blood Institute website states that hemolytic anemia is a condition in which red blood cells are prematurely destroyed and removed from the bloodstream. In normal, healthy individuals, red blood cells -- the disc-shaped cells that carry oxygen to the body's tissues and organs -- live for approximately 120 days in the bloodstream before dying. According to the NHLBI, there are two principle types of hemolytic anemia: inherited and acquired. Inherited hemolytic anemia is caused by faulty genes, whereas acquired hemolytic anemia is caused by certain diseases or conditions. Hemolytic anemia may cause chills, dark urine, fatigue and an elevated heart rate. In some cases, the anemia can contribute to heart failure, decreased blood pressure and even death.
Neurological Problems
Neurological problems or symptoms may occur with glutathione synthetase deficiency. According to the Genetics Home Reference website, neurological symptoms often manifest in a person with the severe form of this condition. One of the most common neurological problems associated with glutathione deficiency is seizures. The intensity of seizures varies between individuals. Glutathione deficiency can also cause neurological problems known as psychomotor retardation. Psychomotor retardation is the scientific term for a generalized slowing down of certain functions including physical reactions, movements and speech. Intellectual disability and ataxia, or loss of coordination, are neurological symptoms associated with glutathione deficiency too. However, glutathione deficiency -- and its accompanying neurological symptoms -- is extremely rare; only 70 cases are recorded worldwide.
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