Glutathione synthetase deficiency

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Glutathione synthetase deficiency
Glutathione structure
Synonyms	GSD
Pronounce	N/A
Specialty	N/A
Symptoms	Metabolic acidosis, hemolytic anemia, jaundice, neurological symptoms
Complications	Seizures, intellectual disability, growth retardation
Onset	Infancy or early childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the GSS gene
Risks	Family history
Diagnosis	Genetic testing, blood tests
Differential diagnosis	Pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency
Prevention	Genetic counseling
Treatment	Sodium bicarbonate, antioxidants, dietary management
Medication	Vitamin E, N-acetylcysteine
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

Illustration of autosomal recessive inheritance

Close-up of Jane Tomlinson plaque

Glutathione synthetase deficiency is a rare autosomal recessive metabolic disorder that prevents the production of the molecule glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production.

Symptoms

The symptoms of glutathione synthetase deficiency can vary greatly. They may include hemolytic anemia, metabolic acidosis, 5-oxoprolinuria, central nervous system dysfunction, and recurrent bacterial infections.

Causes

Glutathione synthetase deficiency is caused by mutations in the GSS gene. This gene provides instructions for making an enzyme called glutathione synthetase. Mutations in the GSS gene reduce the activity of glutathione synthetase, preventing cells from making enough glutathione.

Diagnosis

The diagnosis of glutathione synthetase deficiency is made by a clinical evaluation that includes a thorough patient history and specialized laboratory testing.

Treatment

Treatment of glutathione synthetase deficiency is directed toward the specific symptoms that are apparent in each individual. Treatment may include the administration of antioxidants and medications to prevent or control anemia and acidosis.

See also

• Metabolic disorder
• GSS gene
• Hemolytic anemia
• 5-oxoprolinuria

References

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