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PubMed This is a summary of 69 peer-reviewed journal articles Updated
Genetics · Congenital Disorders of Glycosylation

A Parent's Guide to Congenital Disorders of Glycosylation (CDG)

At a Glance

Congenital disorders of glycosylation (CDG) are rare genetic conditions affecting how the body uses sugars to build proteins. Because CDG involves many different subtypes, identifying your child's specific genetic mutation is critical for guiding treatment and building a multidisciplinary care team.

Receiving a diagnosis of a Congenital Disorder of Glycosylation (CDG) for your child can be an incredibly overwhelming experience. CDG is not just one condition, but a large family of rare genetic disorders that affect how the body processes sugars to build and direct proteins. Because it is so rare, you might feel like you are navigating uncharted territory.

This guide is designed to empower you. It translates complex medical and genetic information into language you can understand and use. It will help you grasp the biology of the disease, understand your child’s specific diagnosis, and learn how to build the best possible care team.

Please use the links below to navigate through the different sections of this guide:

01

Understanding Your Child's CDG Diagnosis

Learn what a Congenital Disorder of Glycosylation (CDG) diagnosis means for your child. Understand the genetics, subtypes like PMM2-CDG, and care options.

02

How CDG Affects the Body: Signs and Symptoms

Learn about the signs and symptoms of Congenital Disorder of Glycosylation (CDG). Discover early red flags and how the condition affects different body systems.

03

The Path to a Clear Answer: Testing and Genetics

Learn how Congenital Disorders of Glycosylation (CDG) are diagnosed. Understand transferrin IEF screening, genetic testing, and how to read your lab report.

04

One Family, Many Paths: Subtypes and Targeted Therapies

Learn about the 160+ CDG subtypes and why precision diagnosis matters. Discover targeted dietary therapies like mannose and galactose for specific CDG types.

05

Managing CDG: Building Your Child's Care Team

Learn how to build a multidisciplinary care team for your child's Congenital Disorder of Glycosylation (CDG). Understand how to manage complications like SLE.

06

Looking Ahead: Long-Term Outlook and Surveillance

Understand the long-term prognosis for Congenital Disorder of Glycosylation (CDG). Learn about CDG stages, early intervention therapies, and health screenings.

While there is a lot to learn, remember that a diagnosis is a map, not a destiny. You are not alone, and there is a vibrant, global community of researchers and families working together to improve the lives of children with CDG.

Common questions in this guide

What is a Congenital Disorder of Glycosylation (CDG)?
CDG is a large family of rare genetic disorders that affect how the body processes sugars to build and direct proteins. These conditions can impact multiple systems throughout the body, causing various neurological and physical symptoms.
How is CDG diagnosed in children?
Diagnosis typically starts with screening blood tests that look at how proteins are structured in the body. This is usually followed by advanced genetic sequencing to identify the specific genetic mutation causing the condition.
Are there treatments available for CDG?
Treatment depends entirely on your child's specific genetic subtype. While many types require symptom management with a multidisciplinary team, some rare subtypes have specific targeted dietary therapies available.
What should I do in a medical emergency for my child with CDG?
You should always carry your child's specific medical records, genetic test results, and any emergency protocols. It is important to establish a clear plan with your specialized care team and local primary care pediatrician to handle urgent situations.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How can we best coordinate care between your specialty clinic and our local primary care pediatrician?
  2. 2.Are there any specific medical records or test results I should always carry with me in case of an emergency?
  3. 3.Who is our main point of contact if we have a question between appointments?

Questions For You

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This guide provides educational information about congenital disorders of glycosylation (CDG) for parents and caregivers. It does not replace professional medical advice from your child's pediatric or genetics care team.

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