Glutathione Synthetase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glutathione Synthetase Deficiency is not the name you expected.
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
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Last Updated: 10/29/2015
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