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PubMed This is a summary of 50 peer-reviewed journal articles Updated
Metabolic Genetics

PMM2-CDG Resource Guide: Understanding the Diagnosis and Planning for Care

At a Glance

PMM2-CDG is a rare, multisystemic metabolic disorder. While a diagnosis can be overwhelming, international medical guidelines exist to help specialized care teams monitor the condition, manage emergencies like stroke-like episodes, and explore emerging treatments like gene therapy.

Welcome to the PMM2-CDG Resource Guide. Receiving a rare disease diagnosis for your child can be an isolating and overwhelming experience. This guide was created to translate complex medical data into clear, empowering information so that you can navigate your child’s care with confidence.

PMM2-CDG is the most common form of a group of metabolic conditions known as Congenital Disorders of Glycosylation [1]. While it is a multisystemic disorder that can affect everything from balance to blood clotting, there are established international guidelines to help your medical team manage it effectively [1].

This guide is broken down into specific topics to help you at every stage of your journey—from understanding the very first test results to building a specialized care team and exploring experimental clinical trials. You do not have to read everything at once. Use this resource to find the answers you need today, and return to it as your child grows and their needs change.

How to Navigate This Guide

01

Understanding PMM2-CDG: First Steps After Diagnosis

Learn the first steps to take after a PMM2-CDG diagnosis. Understand what this genetic condition means, how it affects your child, and next steps for care.

02

Recognizing the Signs: Symptoms of PMM2-CDG Across Ages

Learn the symptoms of PMM2-CDG from infancy to childhood. Understand early signs like hypotonia and abnormal fat pads, plus ataxia and stroke-like episodes.

03

How PMM2-CDG Works: Biology and Diagnostic Testing

Learn how PMM2-CDG affects the body and how it is diagnosed. Understand screening tests like CDT, genetic testing for the PMM2 gene, and your pathology report.

04

Multidisciplinary Care and Emergency Management

Learn how to build a multidisciplinary care team for PMM2-CDG. Understand emergency protocols for stroke-like episodes, clotting risks, and fever management.

05

Long-Term Surveillance and Complications

Learn how to manage long-term PMM2-CDG surveillance and complications. Understand monitoring schedules, the p.Val231Met variant, and clinical rating scales.

06

Emerging Treatments and Clinical Trials

Explore emerging treatments and clinical trials for PMM2-CDG. Learn about acetazolamide for ataxia, pharmacological chaperones, and gene therapy research.

Common questions in this guide

What is PMM2-CDG?
PMM2-CDG is the most common form of a group of metabolic conditions known as Congenital Disorders of Glycosylation. It is a multisystemic disorder that affects how the body processes sugars, which can impact everything from balance to blood clotting.
What specialists should be on my child's PMM2-CDG care team?
Based on international guidelines, your core care team should include specialists experienced in managing metabolic conditions. A metabolic geneticist and a pediatric neurologist are typically essential for coordinating comprehensive care.
What emergencies should parents of children with PMM2-CDG watch for?
Caregivers should be aware of potential neurological emergencies, such as stroke-like episodes. There are also specific bleeding risks that require careful monitoring and emergency management protocols established with your care team.
What body systems need long-term monitoring with PMM2-CDG?
Because it is a multisystemic disorder, long-term surveillance requires monitoring several major organ systems. Your medical team will typically establish monitoring schedules for the heart, liver, and endocrine systems, as well as track neurological development.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What are the specific mutations found in my child's PMM2 gene, and what is known about this genotype?
  2. 2.Based on the 2020 international guidelines, which specialists (like a metabolic geneticist or pediatric neurologist) should be on our core care team?
  3. 3.What initial screening tests (such as liver enzymes, coagulation studies, or an echocardiogram) do we need to schedule now?
  4. 4.Can you help us understand our child's current 'baseline' for development and physical health?
  5. 5.How often should we monitor for potential issues like 'stroke-like episodes' or adrenal insufficiency?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (1)
  1. 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

This guide provides educational information about PMM2-CDG to help you plan your child's care. It does not replace professional medical advice from your pediatric neurologist or metabolic geneticist.

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