Medical Genetics

Managing CDG: Building Your Child's Care Team

At a Glance

Managing Congenital Disorder of Glycosylation (CDG) requires a coordinated multidisciplinary care team led by a metabolic geneticist. Because CDG affects multiple organ systems, management focuses on supportive care, therapy, and preventing complications like blood clots and stroke-like episodes.

Managing a rare disease like CDG requires more than just one doctor; it requires a coordinated “medical home.” Because CDG can affect almost every organ, the standard of care centers on a multidisciplinary approach—a team of specialists who communicate with each other to manage your child’s unique symptoms ^[1]^[2].

Building Your Care Team

The 2019 international consensus guidelines for PMM2-CDG (the most common form) recommend that every child be evaluated across all organ systems ^[1]. Your team should ideally be led by a Metabolic Geneticist who acts as the “quarterback” for the other specialists:

Neurologist: Focuses on balance, muscle tone, and monitoring for seizures or “stroke-like episodes” ^[3]^[4].
Gastroenterologist / Nutritionist: Ensures your child is gaining weight and monitors for liver issues ^[5].
Hematologist: Monitors the proteins that help blood clot, as CDG often lowers these levels ^[6].
Cardiologist: Performs regular EKGs and ultrasounds (echocardiograms) to check for fluid around the heart or heart muscle weakness ^[7]^[8].
Endocrinologist: Monitors growth hormones, blood sugar (hypoglycemia), and thyroid function ^[9]^[10].
Therapists (PT/OT/SLP): Provide the “daily medicine” of rehabilitation to help with motor skills and communication ^[11].

Managing Common Complications

Since there is currently no curative treatment for most types of CDG, management is supportive and preventive ^[12]^[13].

Blood Clotting (Coagulation)

Many children with CDG have low levels of natural “blood thinners” like Antithrombin III, Protein C, and Protein S ^[6].

The Risk: This can lead to an increased risk of both bleeding (16% frequency) and dangerous blood clots (10% frequency) ^[6].
Management: Your team will likely check these levels regularly, especially before any surgery or during a major illness.

Stroke-like Episodes (SLE)

Unique to certain types of CDG (like PMM2-CDG), these events can look like a stroke but are usually triggered by a fever, infection, or minor head trauma ^[14].

Emergency Protocol: Parents should have a written “rescue plan” from their doctor. This usually involves intravenous (IV) hydration at the hospital, fever management, and sometimes monitoring in a hospital setting to prevent complications ^[14].

Immune System

Some children with CDG, particularly infants, are more prone to infections ^[15]^[16]. Your team may recommend a specific vaccination schedule or, in some cases, consultation with an Immunologist if your child is getting sick frequently ^[15].

Vetting Your Specialists

When meeting a new specialist, you can use these questions to see if they are a good fit for your child’s complex needs:

“Are you familiar with the specific multisystem risks associated with CDG, or are you willing to consult with a metabolic expert who is?”
“How do you prefer to communicate with the other members of my child’s care team, and are you willing to update our local primary pediatrician?”
“Can you help us establish ‘baseline’ tests for my child so we know what is ‘normal’ for them before an emergency happens?”

Learn about the long term journey in Long-Term Outlook and Surveillance.

Common questions in this guide

What type of doctor should lead a CDG care team?

A metabolic geneticist typically acts as the primary coordinator for a CDG care team. They organize care among other necessary specialists like neurologists, cardiologists, and hematologists to safely manage the condition's multisystem effects.

What triggers stroke-like episodes in children with CDG?

A stroke-like episode is a neurological event that mimics a stroke, often triggered by a fever, infection, or minor head trauma. Parents should establish a written hospital rescue plan that typically involves prompt intravenous hydration and fever management.

Why do children with CDG need to be monitored by a hematologist?

CDG can lower the levels of natural blood-thinning proteins like Antithrombin III, Protein C, and Protein S. A hematologist monitors these protein levels to help manage the increased risks of both abnormal bleeding and dangerous blood clots.

What therapies are recommended for daily CDG management?

Physical, occupational, and speech therapy act as the daily medicine for children with CDG. These consistent rehabilitation therapies are crucial for improving a child's motor skills, balance, muscle tone, and communication abilities.

Curated prompts to bring to your next appointment.

1.Does my child's current care plan align with the 2019 international consensus guidelines for PMM2-CDG?
2.What is my child's baseline for Antithrombin III and Protein C/S, and at what level would we need to start preventative treatment?
3.Do we have a written 'rescue protocol' for what to do during a fever or if my child hits their head, to reduce the risk of a stroke-like episode?
4.How often should we be screening my child's heart (EKG/ECHO) and liver (ultrasound/enzymes) even if they seem healthy?
5.Are you willing to communicate and share records directly with our local primary care pediatrician?

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References (16)

1
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, et al.
Journal of inherited metabolic disease 2019; (42(1)):5-28 doi:10.1002/jimd.12024.
PMID: 30740725
2
Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.
Zhang H, Zhang J, Ma W, et al.
Molecular genetics and metabolism 2025; (145(4)):109178 doi:10.1016/j.ymgme.2025.109178.
PMID: 40555085
3
Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.
Serrano M
Frontiers in pediatrics 2021; (9()):717864 doi:10.3389/fped.2021.717864.
PMID: 34708008
4
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(2)):101027 doi:10.1016/j.gim.2023.101027.
PMID: 37955240
5
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).
Witters P, Cassiman D, Morava E
Nutrients 2017; (9(11)) doi:10.3390/nu9111222.
PMID: 29112118
6
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D, Ligezka AN, Rezents J, et al.
Molecular genetics and metabolism 2023; (139(2)):107606 doi:10.1016/j.ymgme.2023.107606.
PMID: 37224763
7
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, et al.
Journal of inherited metabolic disease 2025; (48(1)):e12826 doi:10.1002/jimd.12826.
PMID: 39633515
8
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Slaba K, Noskova H, Vesela P, et al.
Frontiers in genetics 2020; (11()):561054 doi:10.3389/fgene.2020.561054.
PMID: 33133147
9
Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.
Ødum SF, Grønborg SW, Main KM, Klose M
JCEM case reports 2025; (3(11)):luaf237 doi:10.1210/jcemcr/luaf237.
PMID: 41080975
10
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Čechová A, Honzík T, Edmondson AC, et al.
Molecular genetics and metabolism 2021; (133(4)):397-399 doi:10.1016/j.ymgme.2021.06.003.
PMID: 34140212
11
Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?
Cardão C, Barros L, Francisco R, et al.
Disability and health journal 2021; (14(3)):101065 doi:10.1016/j.dhjo.2021.101065.
PMID: 33531289
12
[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
Zhou SY
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(2)):223-228 doi:10.7499/j.issn.1008-8830.2209049.
PMID: 36854702
13
New and potential strategies for the treatment of PMM2-CDG.
Gámez A, Serrano M, Gallego D, et al.
Biochimica et biophysica acta. General subjects 2020; (1864(11)):129686 doi:10.1016/j.bbagen.2020.129686.
PMID: 32712172
14
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, et al.
Molecular genetics and metabolism 2023; (140(3)):107674 doi:10.1016/j.ymgme.2023.107674.
PMID: 37542768
15
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
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Frontiers in immunology 2024; (15()):1350101 doi:10.3389/fimmu.2024.1350101.
PMID: 38550576
16
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
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PMID: 30587846

This page provides educational information about building a care team and managing Congenital Disorder of Glycosylation (CDG). It does not replace professional medical advice or personalized emergency protocols from your child's medical specialists.

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