Overview
Glutathione synthetase deficiency without 5-oxoprolinuria is a rare inherited metabolic condition that affects the body's ability to make glutathione, an important molecule that protects red blood cells from damage. Glutathione is a natural antioxidant found in nearly every cell in the body, and it plays a key role in keeping red blood cells healthy and functioning properly. In this milder form of glutathione synthetase deficiency, the enzyme that makes glutathione is partially impaired, mainly affecting red blood cells. Unlike the more severe forms of the disease, this type does not cause a buildup of 5-oxoproline (pyroglutamic acid) in the urine, which is why it is described as being "without 5-oxoprolinuria." The main problem caused by this condition is hemolytic anemia, meaning red blood cells break down faster than normal. This can lead to symptoms such as fatigue, paleness, yellowing of the skin or eyes (jaundice), and dark-colored urine, especially during times of illness or exposure to certain medications or chemicals that cause oxidative stress. The condition is present from birth, though symptoms may not always be immediately obvious. Treatment is mainly supportive and focuses on managing anemia and avoiding triggers that can worsen red blood cell destruction. Some patients may benefit from vitamins and antioxidants to help protect their red blood cells. With proper management, many individuals with this mild form lead relatively normal lives.
Key symptoms:
Fatigue and tirednessPale skinYellowing of the skin or eyes (jaundice)Dark-colored urineShortness of breath during activityRapid heartbeatWeaknessEpisodes of worsened anemia during illness or stressEnlarged spleen in some casesGallstones in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Glutathione synthetase deficiency without 5-oxoprolinuria.
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Specialists
View all specialists →No specialists are currently listed for Glutathione synthetase deficiency without 5-oxoprolinuria.
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
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) anemia, and how often should blood counts be checked?,What specific medications and substances should we avoid?,Should we take folic acid, vitamin E, or other supplements, and at what doses?,What are the warning signs that we need emergency medical care?,Is genetic counseling recommended for our family, and should other family members be tested?,Are there any activity restrictions we should follow?,How will this condition be monitored long-term, and what complications should we watch for?
Common questions about Glutathione synthetase deficiency without 5-oxoprolinuria
What is Glutathione synthetase deficiency without 5-oxoprolinuria?
Glutathione synthetase deficiency without 5-oxoprolinuria is a rare inherited metabolic condition that affects the body's ability to make glutathione, an important molecule that protects red blood cells from damage. Glutathione is a natural antioxidant found in nearly every cell in the body, and it plays a key role in keeping red blood cells healthy and functioning properly. In this milder form of glutathione synthetase deficiency, the enzyme that makes glutathione is partially impaired, mainly affecting red blood cells. Unlike the more severe forms of the disease, this type does not cause a b
How is Glutathione synthetase deficiency without 5-oxoprolinuria inherited?
Glutathione synthetase deficiency without 5-oxoprolinuria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.