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Glycogen storage disease type X(GSD10)

MedGen UID:
120613
•Concept ID:
C0268149
•
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

Definition

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:
603270
•Concept ID:
C0424551
•
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
See: Feature record | Search on this feature
Exercise-induced myalgia
MedGen UID:
340638
•Concept ID:
C1850830
•
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
See: Feature record | Search on this feature
Hereditary myoglobinuria
MedGen UID:
44557
•Concept ID:
C0027080
•
Finding
Presence of myoglobin in the urine.
See: Feature record | Search on this feature
Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
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.
See: Feature record | Search on this feature
Myopathy
MedGen UID:
10135
•Concept ID:
C0026848
•
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
See: Feature record | Search on this feature
Rhabdomyolysis
MedGen UID:
19775
•Concept ID:
C0035410
•
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
See: Feature record | Search on this feature
Exercise-induced muscle cramps
MedGen UID:
383715
•Concept ID:
C1855578
•
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
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
Newborn screening of neuromuscular diseases.
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
Congenital neutropenia: diagnosis, molecular bases and patient management.
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

Diagnosis

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.
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

Prognosis

Muscle phosphoglycerate mutase deficiency revisited.
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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