Overview
Alpha-mannosidosis (adult form) is a rare inherited metabolic disease that belongs to a group of conditions called lysosomal storage disorders. It is caused by a shortage of an enzyme called alpha-mannosidase, which is needed to break down certain sugar molecules (oligosaccharides) inside cells. When this enzyme does not work properly, these sugar molecules build up in cells throughout the body, gradually causing damage to many organs and tissues. The adult form of alpha-mannosidosis is generally milder than the childhood forms. People with this form may experience mild to moderate intellectual disability, hearing loss, skeletal abnormalities such as joint stiffness or changes in bone shape, muscle weakness, and recurrent infections due to immune system problems. Some individuals also develop psychiatric symptoms such as depression or confusion. Symptoms tend to progress slowly over time, and many people are not diagnosed until adolescence or adulthood because the signs can be subtle. Treatment options have expanded in recent years. An enzyme replacement therapy called velmanase alfa (marketed as Lamzede) has been approved in Europe for treating non-neurological symptoms. Supportive care, including hearing aids, physical therapy, and management of infections, remains an important part of treatment. Bone marrow transplantation has also been used in some cases, particularly in younger patients. Research into additional therapies is ongoing.
Also known as:
Key symptoms:
Hearing lossMild to moderate intellectual disabilityJoint stiffness and painBone abnormalitiesMuscle weaknessFrequent infectionsDifficulty with balance and coordinationCoarsened facial featuresSpeech difficultiesPsychiatric symptoms such as depression or confusionFatigueReduced mobility over timeImmune system problems
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Alpha-mannosidosis, adult form.
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Specialists
View all specialists →No specialists are currently listed for Alpha-mannosidosis, adult form.
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 Alpha-mannosidosis, adult form.
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 is the severity of my condition, and how quickly might it progress?,Am I a candidate for enzyme replacement therapy with velmanase alfa (Lamzede)?,Should I be evaluated for bone marrow transplantation?,How often should I have hearing tests and other monitoring?,What can I do to protect myself from infections?,Are there clinical trials or new treatments I should know about?,Should my family members be tested to see if they are carriers?
Common questions about Alpha-mannosidosis, adult form
What is Alpha-mannosidosis, adult form?
Alpha-mannosidosis (adult form) is a rare inherited metabolic disease that belongs to a group of conditions called lysosomal storage disorders. It is caused by a shortage of an enzyme called alpha-mannosidase, which is needed to break down certain sugar molecules (oligosaccharides) inside cells. When this enzyme does not work properly, these sugar molecules build up in cells throughout the body, gradually causing damage to many organs and tissues. The adult form of alpha-mannosidosis is generally milder than the childhood forms. People with this form may experience mild to moderate intellectu
How is Alpha-mannosidosis, adult form inherited?
Alpha-mannosidosis, adult form follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alpha-mannosidosis, adult form typically begin?
Typical onset of Alpha-mannosidosis, adult form is adult. Age of onset can vary across affected individuals.