Overview
Mucolipidosis type III gamma (also called ML III gamma or pseudo-Hurler polydystrophy, gamma type) is a rare inherited metabolic disorder that belongs to a group of diseases called mucolipidoses. It is caused by changes in the GNPTG gene, which provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme is responsible for tagging certain proteins so they can be delivered to the right place inside cells — a compartment called the lysosome, which acts like the cell's recycling center. When this tagging process does not work properly, important proteins build up in the wrong places, causing damage to many tissues and organs over time. People with ML III gamma typically begin showing symptoms in early childhood, often between ages 3 and 5. Common features include stiff and painful joints, especially in the hands and shoulders, as well as a curved spine (scoliosis), short stature, and coarsened facial features. Some individuals experience mild intellectual difficulties or learning challenges, though many have normal intelligence. The heart valves and the aorta can also be affected over time. There is currently no cure for ML III gamma. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain joint movement, pain management, orthopedic care for spine and joint problems, and regular monitoring of the heart. With careful management, many people with ML III gamma live into adulthood, though they often face increasing physical limitations as they age.
Also known as:
Key symptoms:
Stiff, painful joints — especially in the hands, shoulders, and hipsShort stature or slower-than-expected growthCurved spine (scoliosis) or hunched postureCoarsened facial featuresCarpal tunnel syndrome causing hand pain or numbnessMild learning difficulties or developmental delays in some individualsHeart valve problemsClouding of the corneas (the clear front part of the eye)Thickened skinReduced range of motion in jointsMild enlargement of the liver or spleen in some casesBone abnormalities visible on X-ray
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Mucolipidosis type III gamma.
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Specialists
View all specialists →No specialists are currently listed for Mucolipidosis type III gamma.
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 Mucolipidosis type III gamma.
Community
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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.What genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,How often should my child see a cardiologist, and what heart problems should we watch for?,What physical or occupational therapy program would you recommend to help maintain joint function?,Are there any clinical trials or research studies for ML III gamma that we might be eligible for?,What signs or symptoms should prompt us to seek emergency care?,How will this condition affect my child's ability to attend school and learn?,What is the expected progression of this disease, and what complications are most important to monitor over time?
Common questions about Mucolipidosis type III gamma
What is Mucolipidosis type III gamma?
Mucolipidosis type III gamma (also called ML III gamma or pseudo-Hurler polydystrophy, gamma type) is a rare inherited metabolic disorder that belongs to a group of diseases called mucolipidoses. It is caused by changes in the GNPTG gene, which provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme is responsible for tagging certain proteins so they can be delivered to the right place inside cells — a compartment called the lysosome, which acts like the cell's recycling center. When this tagging process does not work properly, important proteins buil
How is Mucolipidosis type III gamma inherited?
Mucolipidosis type III gamma follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mucolipidosis type III gamma typically begin?
Typical onset of Mucolipidosis type III gamma is childhood. Age of onset can vary across affected individuals.