Overview
Glutathione synthetase deficiency with 5-oxoprolinuria (also called GSS deficiency or pyroglutamic aciduria) is a rare inherited metabolic disorder in which the body cannot make enough of an important protective molecule called glutathione. Glutathione plays a vital role in defending cells against damage from harmful substances called free radicals, and it also helps red blood cells stay healthy. When glutathione levels are too low, a chemical called 5-oxoproline (pyroglutamic acid) builds up in the blood and spills into the urine, which is why the condition is also known as 5-oxoprolinuria. This disease can range from mild to severe. In the mild form, the main problem is the breakdown of red blood cells (hemolytic anemia), which causes tiredness, pale skin, and jaundice (yellowing of the skin and eyes). In moderate and severe forms, the disease also affects the brain and nervous system, leading to seizures, intellectual disability, problems with coordination, and episodes of metabolic acidosis — a dangerous buildup of acid in the blood. Severe forms may appear in the newborn period with life-threatening acidosis. Treatment focuses on managing symptoms and preventing complications. This includes correcting acidosis with bicarbonate supplements, treating anemia with blood transfusions when needed, using antioxidants like vitamins C and E to help compensate for the lack of glutathione, and avoiding medications and substances that increase oxidative stress. While there is no cure, early diagnosis and consistent management can significantly improve quality of life and outcomes.
Key symptoms:
Hemolytic anemia (red blood cells break down too easily)Jaundice (yellowing of skin and eyes)Pale skin and fatigueMetabolic acidosis (too much acid in the blood)SeizuresIntellectual disabilityDelayed developmentPoor coordination and balance problemsRecurrent infectionsDark-colored urineFailure to thrive in infancyMuscle weaknessRapid breathing due to acidosisFeeding difficulties in newborns
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Glutathione synthetase deficiency with 5-oxoprolinuria.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Glutathione synthetase deficiency with 5-oxoprolinuria.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What severity level does my child's glutathione synthetase deficiency fall into — mild, moderate, or severe?,What medications and substances should we strictly avoid?,How often should blood counts and metabolic labs be checked?,What should we do if our child becomes sick with a fever or stomach virus — is there a sick-day protocol?,Are there any clinical trials or new treatments being studied for this condition?,What developmental milestones should we watch for, and when should we seek early intervention services?,Should other family members be tested to see if they are carriers?
Common questions about Glutathione synthetase deficiency with 5-oxoprolinuria
What is Glutathione synthetase deficiency with 5-oxoprolinuria?
Glutathione synthetase deficiency with 5-oxoprolinuria (also called GSS deficiency or pyroglutamic aciduria) is a rare inherited metabolic disorder in which the body cannot make enough of an important protective molecule called glutathione. Glutathione plays a vital role in defending cells against damage from harmful substances called free radicals, and it also helps red blood cells stay healthy. When glutathione levels are too low, a chemical called 5-oxoproline (pyroglutamic acid) builds up in the blood and spills into the urine, which is why the condition is also known as 5-oxoprolinuria.
How is Glutathione synthetase deficiency with 5-oxoprolinuria inherited?
Glutathione synthetase deficiency with 5-oxoprolinuria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Glutathione synthetase deficiency with 5-oxoprolinuria typically begin?
Typical onset of Glutathione synthetase deficiency with 5-oxoprolinuria is neonatal. Age of onset can vary across affected individuals.