National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

PGM1-CDG


Other Names:
GSD type 14; GSDXIV; Phosphoglucomutase deficiency type 1; GSD type 14; GSDXIV; Phosphoglucomutase deficiency type 1; Type 14 glycogenosis; Congenital disorder of glycosylation, type It ; CDG syndrome type It; CDG-It; CDG1T; Congenital disorder of glycosylation type 1t; Congenital disorder of glycosylation type It; Phosphoglucomutase-1 deficiency; PGM1-related congenital disorder of glycosylation; Glycogen storage disease due to phosphoglucomutase deficiency See More
Categories:
PGM1-CDG is one of the many subtypes of congenital disorders of glycosylation (CDG), which are inherited diseases that affect the body's process of adding sugar building blocks to proteins (glycosylation).[1] There are many steps in glycosylation, each of which is controlled by a different gene. The type of CDG a person has depends on which gene is involved.[2] 

The signs and symptoms of PGM1-CDG can be different from person to person. They may include cleft palate or bifid uvula; low blood sugar (hypoglycemia); endocrine disorders; muscle disease, leading to muscle weakness or death of muscle fibers (rhabdomyolysis); liver disease; blood clotting problems; and a weak and enlarged heart chamber (dilated cardiomyopathy).[1][2] Some people with PGM1-CDG have central nervous system involvement such as seizures, development delay, or intellectual disability.[2]

PGM1-CDG is caused by mutations in the PGM1 gene and inheritance is autosomal recessive.[1][2][3] The diagnosis may be suspected based on symptoms and specific blood test results, and it is confirmed with genetic testing.[1] Treatment depends on the symptoms and severity in each person and may include oral D-galactose supplementation, standard treatment of hypoglycemia,  and/or heart medications or heart transplantation for cardiomyopathy.[1][2] The course of the disorder and whether symptoms or complications may affect the lifespan are difficult to predict and vary among people with PGM1-CDG.[4]
Last updated: 4/2/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Cerebral venous thrombosis
Blood clot in cerebral vein
0005305
Dyspnea
Trouble breathing
0002094
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Fatigue
Tired
Tiredness
[ more ] 		0012378
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Pierre-Robin sequence 0000201
Reduced antithrombin III activity 0001976
Rhabdomyolysis
Breakdown of skeletal muscle
0003201
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bifid uvula 0000193
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Elevated hepatic transaminase
High liver enzymes
0002910
Exercise intolerance
Decreased ability to exercise
Inability to exercise
[ more ] 		0003546
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hepatitis
Liver inflammation
0012115
Hypoglycemia
Low blood sugar
0001943
Muscle weakness
Muscular weakness
0001324
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Tachycardia
Fast heart rate
Heart racing
Racing heart
[ more ] 		0001649
Type I transferrin isoform profile 0003642
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. What is CDG?. CDG Care. http://cdgcare.com/what-is-cdg/. Accessed 3/13/2019.
  2. Radenkovic S, Witters P, Morava E. Central nervous involvement is common in PGM1-CDG. Mol Genet Metab. November, 2018; 125(3:200-204. https://www.sciencedirect.com/science/article/pii/S1096719218303184?via%3Dihub.
  3. Congenital Disorder of Glycosylation, Type It; CDG1T. Online Mendelian Inheritance in Man (OMIM). November 30, 2017; https://www.omim.org/entry/614921.
  4. Wong SY, Beamer LJ, Gadomski T, et al. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. J Pediatr. August, 2016; 175:130-136. https://www.ncbi.nlm.nih.gov/pubmed/27206562.