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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 Type X; GSD X; GSD10; Human muscle phosphoglycerate mutase deficiency; Myopathy due to phosphoglycerate mutase deficiency; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
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: PGAM2
Cytogenetic location: 7p13
OMIM: 261670

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 GHR]

Clinical features

Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
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.
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Rhabdomyolysis
MedGen UID:
505480
Concept ID:
CN002889
Finding
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Exercise-induced muscle cramps
MedGen UID:
505579
Concept ID:
CN003353
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Exercise-induced myalgia
MedGen UID:
505583
Concept ID:
CN003377
Finding
The occurrence of an unusually high amount of muscle pain following exercise.

Recent clinical studies

Prognosis

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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