Overview
Alpha-mannosidosis, infantile 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, causing progressive damage to many organs and tissues. The infantile (severe) form of alpha-mannosidosis typically appears in the first year of life and progresses rapidly. Affected children often show developmental delays, intellectual disability, coarse facial features, skeletal abnormalities, hearing loss, and frequent infections due to immune system problems. The liver and spleen may become enlarged. Over time, children may develop worsening neurological problems and loss of previously acquired skills. Treatment options include enzyme replacement therapy (ERT) with velmanase alfa (marketed as Lamzede), which was approved in Europe to treat non-neurological symptoms. Bone marrow transplantation (hematopoietic stem cell transplantation) has also been used in some cases, particularly in younger patients, and may help slow disease progression. Supportive care including hearing aids, physical therapy, speech therapy, and management of infections is an important part of treatment. Despite available therapies, the infantile form carries a serious prognosis, and early diagnosis and intervention are critical to achieving the best possible outcomes.
Also known as:
Key symptoms:
Intellectual disabilityDelayed development and loss of skillsCoarse facial featuresHearing lossFrequent infectionsEnlarged liver and spleenSkeletal abnormalities and joint stiffnessMuscle weaknessPoor balance and coordinationSpeech difficultiesCloudy corneas or vision problemsShort statureHernias (umbilical or inguinal)Behavioral problemsDifficulty swallowing
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Alpha-mannosidosis, infantile form.
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Specialists
View all specialists →No specialists are currently listed for Alpha-mannosidosis, infantile 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, infantile 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
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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 child's condition, and what can we expect in terms of disease progression?,Is enzyme replacement therapy (velmanase alfa/Lamzede) available and appropriate for my child?,Should we consider hematopoietic stem cell transplantation, and what are the risks and benefits?,How often should my child have hearing tests, brain imaging, and other monitoring?,What therapies (physical, occupational, speech) should we start, and how often?,Are there clinical trials or new treatments being studied that my child might be eligible for?,Should other family members be tested for carrier status, and what are the options for future pregnancies?
Common questions about Alpha-mannosidosis, infantile form
What is Alpha-mannosidosis, infantile form?
Alpha-mannosidosis, infantile 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, causing progressive damage to many organs and tissues. The infantile (severe) form of alpha-mannosidosis typically appears in the first year of life and progresses rapidly. Affected children often
How is Alpha-mannosidosis, infantile form inherited?
Alpha-mannosidosis, infantile form follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alpha-mannosidosis, infantile form typically begin?
Typical onset of Alpha-mannosidosis, infantile form is infantile. Age of onset can vary across affected individuals.