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Condition report · Metabolic

Glutathione Synthetase Deficiency

Glutathione synthetase deficiency is a rare inherited metabolic disorder that prevents the body from producing enough glutathione, an important antioxidant molecule that protects cells from damage.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Inherited Glutathione Synthetase Deficiency

Autosomal recessive

An inherited shortage of glutathione caused by changes in GSS, ranging from mild red blood cell breakdown to severe forms with acid build-up and 5-oxoprolinuria.

What a diagnosis changes

Knowing about it supports avoiding medicines and foods that trigger red cell breakdown, and antioxidant treatment in severe forms.

Genes analysed

Also known as

5-oxoprolinuria; glutathione synthetase deficiency; GSSD; inborn error of glutathione synthase activity; inborn glutathione synthase activity disorder; oxoprolinase deficiency; pyroglutamic aciduria; pyroglutamicaciduria; rare inborn error of glutathione synthase activity

Specific forms also covered

  • glutathione synthetase deficiency with 5-oxoprolinuria

    Autosomal recessive

    GSS

Includes 2 related subtypes ↓
  • glutathione synthetase deficiency with 5-oxoprolinuria
  • glutathione synthetase deficiency without 5-oxoprolinuria
MONDO:0017909Orphanet 32MedGen 1876682

Other metabolic conditions

All conditions →

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