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Glycogen storage disease type X(GSD10)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Dimauro disease; Glycogen storage disease due to phosphoglycerate mutase deficiency; GSD X; GSD10; Myopathy due to phosphoglycerate mutase deficiency; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
SNOMED CT: Muscle phosphoglycerate mutase deficiency (61772003); Glycogen storage disease type X (37666005); GSD X (37666005); Glycogenosis due to inactive phosphorylase AND kinase (37666005)
Gene (location): PGAM2 (7p13)
Monarch Initiative: MONDO:0009865
OMIM®: 261670
Orphanet: ORPHA97234


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. [from MedlinePlus Genetics]

Clinical features

From HPO
Exercise intolerance
MedGen UID:
Concept ID:
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Exercise-induced myalgia
MedGen UID:
Concept ID:
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Hereditary myoglobinuria
MedGen UID:
Concept ID:
Presence of myoglobin in the urine.
Renal insufficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
MedGen UID:
Concept ID:
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
MedGen UID:
Concept ID:
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Exercise-induced muscle cramps
MedGen UID:
Concept ID:
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Elevated circulating creatine kinase concentration
MedGen UID:
Concept ID:
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Professional guidelines


Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED
J Am Coll Cardiol 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. PMID: 37821174
Dangouloff T, Boemer F, Servais L
Neuromuscul Disord 2021 Oct;31(10):1070-1080. Epub 2021 Jul 28 doi: 10.1016/j.nmd.2021.07.008. PMID: 34620514
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB
Orphanet J Rare Dis 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. PMID: 21595885Free PMC Article

Recent clinical studies


Nayab A, Alam Q, Alzahrani OR, Khan R, Sarfaraz S, Albaz AA, Rafeeq MM, Sain ZM, Waqas A, Umair M
Eur J Med Genet 2021 Sep;64(9):104283. Epub 2021 Jul 5 doi: 10.1016/j.ejmg.2021.104283. PMID: 34237446


Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S
Arch Neurol 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. PMID: 19273759

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