Living with MPDU1-congenital disorder of glycosylation
A rare inherited condition with developmental delay, seizures, slow growth, heart muscle disease, and scaly skin.
Understanding MPDU1-congenital disorder of glycosylation
It is marked by delayed development, seizures, trouble gaining weight, heart muscle disease (cardiomyopathy), and skin changes that look like ichthyosis (dry, scaly skin). Signs are seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- Severe intellectual disability
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 brain and nervous system specialists, genetic specialists, seizure and epilepsy specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MPDU1 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
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- 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 CDG CARE 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 MPDU1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type if; cdg if; cdg syndrome type if; cdg-if; cdg1f; cdgif
Patient organizations
- CDG CAREMPDU1-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with MPDU1-congenital disorder of glycosylation.
Explore research for MPDU1-congenital disorder of glycosylation
Explore actively recruiting MPDU1-congenital disorder of glycosylation studies with HealthSpark.
Find actively recruiting studies for MPDU1-congenital disorder of glycosylation with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting MPDU1-congenital disorder of glycosylation studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for MPDU1-congenital disorder of glycosylation
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your MPDU1-congenital disorder of glycosylation experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.