Living with MGAT2-congenital disorder of glycosylation
A rare inherited condition with distinct facial features, seizures, developmental delay, and easy bleeding.
Understanding MGAT2-congenital disorder of glycosylation
Features include distinct facial features, repeated hand movements, seizures, and developmental delay that varies. A tendency to bleed is seen because platelets do not clump well. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Seizures
- Low muscle tone
- Slow weight gain
- Small head that grows slowly (progressive microcephaly)
- Distinct facial shape
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 and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MGAT2 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); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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
- 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 MGAT2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: alkuraya syndrome; carbohydrate deficient glycoprotein syndrome type 2a; carbohydrate deficient glycoprotein syndrome type iia; carbohydrate-deficient glycoprotein syndrome type ii; cdg - carbohydrate-deficient glycoprotein syndrome type ii; cdg iia
Patient organizations
- CDG CAREMGAT2-congenital disorder of glycosylation · United States
You are more than your diagnosis
Perspectives from people navigating life with MGAT2-congenital disorder of glycosylation.
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