Glutathione Synthetase Deficiency

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Glutathione Synthetase Deficiency is not the name you expected.

Disorder Subdivisions

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General Discussion

Glutathione synthetase deficiency is an extremely rare disorder characterized by a deficiency of the enzyme glutathione synthetase. This enzyme is part of the chemical process by which the body creates glutathione, a protein molecule that plays a role in many cell processes. Glutathione synthetase deficiency is often classified as mild, moderate or severe. Consequently, the specific symptoms and severity can vary greatly from one person to another. Generally, the mild form only affects red blood cells (erythrocytes). The severe form is widespread (generalized) affecting many types of cells of the body. The moderate form falls in between these two extremes. Glutathione synthetase deficiency is caused by alterations (mutations) in the GSS gene and is inherited in an autosomal recessive manner.

The generalized form is also known as 5-oxoprolinuria or pyroglutamic aciduria because extremely high levels of 5-oxoproline, an amino acid derivative, can be detected in the urine. However, 5-oxoprolinuria can occur as part of several different disorders or due to several environmental factors.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255

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Last Updated:  10/29/2015
Copyright  2015 National Organization for Rare Disorders, Inc.