Living with MPI-congenital disorder of glycosylation
A rare inherited condition with repeated vomiting, low blood sugar, liver and gut problems, and blood clotting differences, usually with normal thinking.
Understanding MPI-congenital disorder of glycosylation
Features include cyclic vomiting, very low blood sugar, trouble gaining weight, liver scarring, and digestive problems such as protein loss through the gut. Blood clotting problems can cause clots. Brain development and thinking skills are usually normal. The course varies, even within families. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vomiting and diarrhea
- Trouble gaining weight
- Enlarged liver and liver scarring
- Protein loss through the gut
- Blood clotting differences, including clots
- Swelling from fluid build-up
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MPI 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE
- 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 MPI gene that stop it from working. 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 ib; cdg ib; cdg syndrome type ib; cdg-ib; cdg1b; congenital disorder of glycosylation type 1b
Patient organizations
- CDG CAREMPI-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINMPI-congenital disorder of glycosylation
You are more than your diagnosis
Perspectives from people navigating life with MPI-congenital disorder of glycosylation.
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