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Glutathione Deficiency Symptoms

author image Jill Corleone, RDN, LD
Jill Corleone is a registered dietitian and health coach who has been writing and lecturing on diet and health for more than 15 years. Her work has been featured on the Huffington Post, Diabetes Self-Management and in the book "Noninvasive Mechanical Ventilation," edited by John R. Bach, M.D. Corleone holds a Bachelor of Science in nutrition.
Glutathione Deficiency Symptoms
Glutathione deficiency is an autosomal recessive genetic disorder.

Glutathione deficiency is known as glutathione synthetase deficiency. It is a rare autosomal recessive genetic disorder with only 70 known cases in the world, according to Genetics Home Reference. Parents undergo genetic testing to determine the risk of having a child born with the disorder. Glutathione acts to prevent damage to cells by deactivating harmful molecules produced during energy production. Symptoms of glutathione synthetase deficiency are dependent on the severity of the disease.

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Hemolytic Anemia

Mild cases of glutathione synthetase deficiency usually result in the destruction of red bloods cells, also known as hemolytic anemia. Hemolytic anemia is characterized by chills, dark urine, fatigue and a rapid heart rate. If left untreated, the anemia can lead to failure of the heart and blood pressure, and ultimately death, according to Medline Plus. Treatment of hemolytic anemia involves treatment of the glutathione deficiency.

Urinary Excretions

Another symptom of mild glutathione synthetase deficiency is the excretion of 5-oxoproline in the urine. Five-oxoproline builds up in the blood when glutathione is not processed in the cells properly, according to the Genetics Home Reference. Five-oxoproline is an amino acid also known as pyroglutamic acid.

Metabolic Acidosis

People with moderate cases of glutathione synthetase deficiency may show signs of metabolic acidosis. Metabolic acidosis is a condition when there is too much acid in the fluids of the body. Metabolic acidosis can cause rapid breathing, confusion or lethargy. In severe cases, metabolic acidosis can lead to shock and death, according to Medline Plus. In cases of glutathione synthetase deficiency, treatment of metabolic acidosis involves treating the underlying cause.


In addition to the symptoms present in mild and moderate cases, neurological symptoms may occur in severe cases of glutathione synthetase deficiency. Symptoms include seizures, decreased reaction time, decreased movements, delayed speech and loss of coordination, according to Genetics Home Reference.

Bacterial Infection

In addition to the neurological problems, people with severe cases of glutathione synthetase deficiency are also more likely to develop bacterial infections, according to Genetics Home Reference.

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