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PGM3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PGM3 gene

The PGM3 gene provides instructions for an enzyme involved in glycosylation, a process essential for the proper function of proteins and lipids.

Normal Function

The PGM3 gene provides instructions for making an enzyme called phosphoglucomutase 3 (PGM3). This enzyme is involved in a process called glycosylation, where complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids) to allow them to perform a wider variety of functions.

The PGM3 enzyme converts N-acetylglucosamine-6-phosphate into N-acetylglucosamine-1-phosphate. This conversion is required to make a sugar called uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc), which is needed to transfer sugars to growing oligosaccharides during glycosylation.

Health Conditions Related to Genetic Changes

PGM3-congenital disorder of glycosylation

At least 16 mutations in the PGM3 gene have been found to cause PGM3-congenital disorder of glycosylation (PGM3-CDG). These mutations result in the production of an enzyme with reduced activity, leading to a shortage of UDP-GlcNAc and impaired glycosylation.

This condition primarily affects the immune system but can involve other areas of the body. Common signs and symptoms include:

  • Impaired immune function (immune deficiency)
  • Distinct facial features
  • Intellectual disability
  • Delayed development

The wide variety of symptoms is likely due to the impaired glycosylation of proteins and lipids necessary for the normal function of many organs and tissues. Immune system proteins are particularly dependent on glycosylation, which explains the immune deficiency observed in affected individuals.

Other Names for This Gene

  • acetylglucosamine phosphomutase
  • AGM1
  • N-acetylglucosamine-phosphate mutase 1
  • PAGM

Frequently Asked Questions

PGM3-CDG is inherited in an autosomal recessive manner, meaning both parents usually carry one mutated copy. If both parents are carriers, each pregnancy has a 25 % chance of being affected. Prenatal testing via chorionic villus sampling or amniocentesis can identify affected fetuses, and pre‑implantation genetic diagnosis is an option for families planning future pregnancies.
Infants with PGM3-CDG often present with recurrent infections such as pneumonia or thrush, eczema or other skin rashes, and failure to thrive. Delayed milestones, like sitting or walking later than usual, and mild facial dysmorphism can also be early clues. If a baby has frequent infections or growth delays, a clinician may consider a glycosylation disorder and order further testing.
Diagnosis starts with a clinical suspicion followed by a blood test for serum transferrin isoelectric focusing to detect abnormal glycosylation patterns. If abnormal, a next step is targeted sequencing of the PGM3 gene or a broader exome panel that includes PGM3. Confirmatory testing may involve functional assays of the enzyme activity in cultured cells.
There is no cure that restores normal PGM3 activity, but immune support is critical. Management includes regular vaccinations (avoiding live vaccines), prophylactic antibiotics during infection flares, and immunoglobulin replacement therapy if antibody production is severely impaired. Some patients benefit from dietary supplements that support glycosylation, such as oral N‑acetylglucosamine, though evidence is limited.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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