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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Phosphoglycerate mutase deficiency

Reviewed December 2011

What is phosphoglycerate mutase deficiency?

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.

How common is phosphoglycerate mutase deficiency?

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.

What genes are related to phosphoglycerate mutase deficiency?

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.

Related Gene(s)

Changes in this gene are associated with phosphoglycerate mutase deficiency.

  • PGAM2

How do people inherit phosphoglycerate mutase deficiency?

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.

Where can I find information about diagnosis or management of phosphoglycerate mutase deficiency?

These resources address the diagnosis or management of phosphoglycerate mutase deficiency and may include treatment providers.

  • Genetic Testing Registry: Glycogen storage disease type X (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268149)

You might also find information on the diagnosis or management of phosphoglycerate mutase deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about phosphoglycerate mutase deficiency?

You may find the following resources about phosphoglycerate mutase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for phosphoglycerate mutase deficiency?

  • deficiency mutase phosphoglycerate
  • glycogen storage disease X
  • GSD10
  • GSDX
  • GSD X
  • myopathy due to phosphoglycerate mutase deficiency
  • PGAM deficiency
  • PGAMM deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about phosphoglycerate mutase deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding phosphoglycerate mutase deficiency?

autosomal ; autosomal recessive ; cell ; deficiency ; enzyme ; gene ; glucose ; glycogen ; inherited ; kidney ; muscle cells ; myoglobin ; myoglobinuria ; protein ; recessive ; simple sugar ; skeletal muscle ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science. 1981 Jun 12;212(4500):1277-9. (http://www.ncbi.nlm.nih.gov/pubmed/6262916?dopt=Abstract)
  • Joshi PR, Knape M, Zierz S, Deschauer M. Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset. Acta Neuropathol. 2009 Jun;117(6):723-5. doi: 10.1007/s00401-009-0524-1. Epub 2009 Mar 26. (http://www.ncbi.nlm.nih.gov/pubmed/19322572?dopt=Abstract)
  • Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Muscle phosphoglycerate mutase deficiency revisited. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. (http://www.ncbi.nlm.nih.gov/pubmed/19273759?dopt=Abstract)
  • Tonin P, Bruno C, Cassandrini D, Savio C, Tavazzi E, Tomelleri G, Piccolo G. Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. Neuromuscul Disord. 2009 Nov;19(11):776-8. doi: 10.1016/j.nmd.2009.08.007. Epub 2009 Sep 23. (http://www.ncbi.nlm.nih.gov/pubmed/19783439?dopt=Abstract)
  • Toscano A, Tsujino S, Vita G, Shanske S, Messina C, Dimauro S. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve. 1996 Sep;19(9):1134-7. (http://www.ncbi.nlm.nih.gov/pubmed/8761269?dopt=Abstract)
  • Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993 Mar;52(3):472-7. (http://www.ncbi.nlm.nih.gov/pubmed/8447317?dopt=Abstract)
  • Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle Nerve Suppl. 1995;3:S50-3. (http://www.ncbi.nlm.nih.gov/pubmed/7603528?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2011
Published: September 15, 2014