Living with Deficiency of alpha-mannosidase
A rare inherited condition affecting many organs, with learning challenges, distinct facial features, and bone differences.
Understanding Deficiency of alpha-mannosidase
People may have intellectual disability, distinct facial features, and bone differences. GARD's summary also lists poor coordination (ataxia), muscle weakness, and delays in motor skills. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large tongue (macroglossia)
- Coarse facial features
- Bowed long bones
- Repeated middle ear infections
- Cataracts and clouded corneas
- Behavior differences
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAN2B1 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) 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD)
- 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 MAN2B1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: alpha-d-mannosidosis; alpha-mannosidase deficiency; alpha-mannosidosis; lysosomal alpha-d-mannosidase deficiency; mannosidosis, alpha-, types i and ii; mansa
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Deficiency of alpha-mannosidase · United States
- International Society for Mannosidosis and Related DiseasesDeficiency of alpha-mannosidase
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of alpha-mannosidase.
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