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Glutathione synthetase deficiency

(GLOO-tuh-THIE-ohn • SIN-thuh-tace • di-FISH-uhn-see)

General Condition Information

Other Names

  • 5-oxoprolinuria
  • Pyroglutamic acidemia

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

High levels of 5-oxoproline

What is glutathione synthetase deficiency

Glutathione synthetase deficiency is an inherited (genetic) condition that prevents the production of a substance called glutathione. Glutathione is an antioxidant that helps protect the body from toxic substances.

Glutathione synthetase is an enzyme that helps make glutathione. Glutathione protects cells from damage by neutralizing harmful substances. Glutathione supports breaking down a substance called 5-oxoproline.

There are three types of Glutathione synthetase deficiency – mild, moderate, and severe – and they differ in signs, symptoms, and age of onset.

Low levels of glutathione and high levels of 5-oxoproline can damage your baby’s body. If untreated, this damage leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

  • Medications to get rid of extra acid in the body
  • Vitamin supplements

Children who receive early and ongoing treatment for Glutathione synthetase deficiency can have healthy growth and development.

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