Living with Beta-D-mannosidosis
A rare inherited condition affecting how the body processes certain sugars, with effects on learning, hearing, and muscles.
Understanding Beta-D-mannosidosis
Signs vary widely in severity and can begin from infancy to adulthood. Almost everyone has intellectual disability, and some have delayed motor skills and seizures. Other features can include hearing loss, speech and swallowing difficulties, low muscle tone, repeated infections, and small dark red spots on the skin (angiokeratomas). Some have behavior or mood changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Hearing loss
- Seizures
- Repeated lung and ear infections
- Distinctive facial features
- Weak belly wall muscles
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MANBA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The International Advocates for Glycoprotein Storage Diseases (ISMRD), Children's Cardiomyopathy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD), Children's Cardiomyopathy Foundation, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The International Advocates for Glycoprotein Storage Diseases (ISMRD) and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MANBA gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: beta-mannosidase deficiency; beta-mannosidosis; lysosomal beta-mannosidase deficiency; mannosidosis, beta; mannosidosis, beta a, lysosomal; mansb
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Beta-D-mannosidosis · United States
- The Lost Enzyme ProjectBeta-D-mannosidosis · International Society for Mannosidosis and Related Diseases
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Beta-D-mannosidosis.
Explore research for Beta-D-mannosidosis
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- Recruiting studies from ClinicalTrials.gov
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