Living with Mucolipidosis type II
An inherited condition (I-cell disease) that affects many body systems, with slow growth, bone and joint differences, and delayed development.
Understanding Mucolipidosis type II
At birth, babies are small with low muscle tone and a weak cry. They grow slowly and usually stop growing during the second year of life. Speech and motor development are delayed, and most do not walk independently. Bone differences are common, along with stiff joints, hernias, heart valve differences, coarse facial features, gum overgrowth, and a hoarse voice. A narrow airway may lead to repeated respiratory infections, and ear infections can cause hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth
- Delayed speech and motor development
- Bone and joint differences with limited movement
- Coarse facial features and gum overgrowth
- Heart valve differences
- Ear infections and hearing loss
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 and genetic specialists.
- 3Consider genetic testing
Changes in GNPTAB 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); 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 Cure Mucolipidosis 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
This condition is caused by changes in the GNPTAB gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: i cell disease; i-cell disease; inclusion cell disease; leroy disease; ml 2; ml disorder type 2
Patient organizations
- Cure MucolipidosisMucolipidosis type II · United States
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Mucolipidosis type II · United States
- International Society for Mannosidosis and Related DiseasesMucolipidosis type II · National MPS Society
You are more than your diagnosis
Perspectives from people navigating life with Mucolipidosis type II.
Explore research for Mucolipidosis type II
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