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Phosphoglycerate mutase deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Phosphoglycerate mutase deficiency

Phosphoglycerate mutase deficiency is a rare genetic disorder that affects skeletal muscles, causing exercise-induced muscle pain, cramping, and potential kidney damage.

Overview

Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.

In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.

Frequency

Phosphoglycerate mutase deficiency is a rare condition; about 15 affected people have been reported in the medical literature. Most affected individuals have been African American.

Causes

Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.

The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.

Gene Associated with Phosphoglycerate Mutase Deficiency

  • PGAM2

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, people who carry one altered copy of the PGAM2 gene may have some features of phosphoglycerate mutase deficiency, including episodes of exercise-induced muscle cramping and myoglobinuria.

Other Names for This Condition

  • Deficiency mutase phosphoglycerate
  • Glycogen storage disease X
  • GSD X
  • GSD10
  • GSDX
  • Myopathy due to phosphoglycerate mutase deficiency
  • PGAM deficiency
  • PGAMM deficiency

Frequently Asked Questions

Repeated episodes of myoglobinuria can lead to acute tubular necrosis and chronic kidney disease. Routine monitoring includes serum creatinine, estimated glomerular filtration rate (eGFR), and urinalysis for hematuria or proteinuria. If kidney function declines, a nephrologist may recommend more frequent testing and early interventions such as hydration protocols or medications to protect renal tubules.
There is no disease‑specific cure, but supportive measures are effective. Avoidance of strenuous exercise, adequate hydration, and prompt treatment of infections can reduce muscle breakdown. Some patients find benefit from carnitine or vitamin B6 supplementation, though evidence is limited; any supplement should be discussed with a physician. Regular physical therapy can improve muscle endurance and reduce cramping.
Excessive or sudden high‑intensity exercise, especially in the heat or with inadequate hydration, can precipitate muscle cramps and myoglobin release. To prevent attacks, start with low‑to‑moderate intensity workouts, gradually increase duration, stay well hydrated, and avoid prolonged periods of inactivity followed by intense activity. Warm‑up and cool‑down stretches help reduce muscle strain.
The condition follows an autosomal recessive pattern, meaning both parents must carry a mutation in the PGAM2 gene. Carrier testing can identify at-risk family members. Prenatal testing (chorionic villus sampling or amniocentesis) or pre‑implantation genetic diagnosis can be offered to couples who wish to avoid having an affected child. Genetic counseling helps families understand recurrence risks and reproductive options.===
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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