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PGAM2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PGAM2 gene

The PGAM2 gene provides instructions for making an enzyme essential for energy production in skeletal muscle cells.

Normal Function

The PGAM2 gene provides instructions for making an enzyme called phosphoglycerate mutase. The version of phosphoglycerate mutase produced from this gene is found predominantly in skeletal muscle cells, which are the muscles used for movement. Another version of this enzyme, produced from a different gene, is found in many other cells and tissues.

Phosphoglycerate mutase is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Phosphoglycerate mutase helps carry out a chemical reaction that converts a molecule called 3-phosphoglycerate, which is produced during the breakdown of glucose, to another molecule called 2-phosphoglycerate.

Health Conditions Related to Genetic Changes

Phosphoglycerate mutase deficiency

At least five mutations in the PGAM2 gene have been found to cause phosphoglycerate mutase deficiency. The most common of these mutations, written as Trp78Ter or W78X, replaces the protein building block (amino acid) tryptophan with a premature stop signal in the instructions for making phosphoglycerate mutase. This mutation results in the production of an abnormally short, nonfunctional version of the enzyme. Other mutations change single amino acids in phosphoglycerate mutase.

Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in skeletal muscle cells. This defect underlies the following symptoms that occur following strenuous exercise in affected individuals:

  • Muscle cramping
  • Muscle breakdown

Other Names for This Gene

  • BPG-dependent PGAM 2
  • GSD10
  • MGC88743
  • muscle-specific phosphoglycerate mutase
  • PGAM-M
  • PGAM2_HUMAN
  • PGAMM
  • phosphoglycerate mutase 2 (muscle)
  • phosphoglycerate mutase isozyme M

Frequently Asked Questions

Yes, but with careful planning. Low‑to‑moderate intensity activities that avoid sudden bursts of high power are generally tolerated. Gradual warm‑ups, frequent short breaks, and pre‑exercise carbohydrate loading can reduce symptoms. In some cases, a structured exercise program supervised by a physiotherapist or sports medicine specialist can improve muscle strength and endurance while minimizing cramping. Regular monitoring of muscle enzymes and symptoms helps adjust activity levels safely.
PGAM2 is inherited in an autosomal recessive pattern. If both parents carry a mutation, each child has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Genetic counseling can provide information on carrier testing, prenatal diagnosis, and options such as pre‑implantation genetic testing for families planning children.
Diagnosis starts with a clinical evaluation of exercise intolerance and muscle symptoms. A muscle biopsy can show characteristic glycogen accumulation and reduced enzyme activity. Genetic testing, usually a targeted PGAM2 sequencing panel, identifies pathogenic variants such as the common Trp78Ter mutation. Blood tests for creatine kinase elevation after exercise and lactate levels can support the diagnosis.
high‑carbohydrate diet, especially before workouts, can provide readily available glucose, bypassing the glycolytic block. Some patients benefit from supplements like creatine, which supports ATP regeneration, or branched‑chain amino acids, which may help maintain muscle energy. Adequate hydration and electrolytes are also important. However, each patient’s response varies, so dietary plans should be individualized under the guidance of a metabolic dietitian.
PGAM2 mutations produce a defective phosphoglycerate mutase enzyme, which is essential for glycolysis in skeletal muscle. When the enzyme is non‑functional or severely reduced, muscles cannot efficiently convert glucose into energy during exercise. This energy shortfall leads to the accumulation of metabolic intermediates, causing muscle cramps, pain, and sometimes breakdown (rhabdomyolysis) after strenuous activity.
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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