Glycogen storage disease due to muscle beta-enolase deficiency(GSD13)

MedGen UID:: 442873
•Concept ID:: C2752027
•: Disease or Syndrome

Synonyms:	Enolase 3 deficiency; Enolase-beta deficiency; Glycogen storage disease type 13; Glycogen Storage Disease Type XIII; GSD XIII; GSD13
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ENO3 (17p13.2)

Monarch Initiative:	MONDO:0013046
OMIM®:	612932
Orphanet:	ORPHA99849

Definition

Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. [from ORDO]

Clinical features

From HPO

Myalgia

MedGen UID:: 68541
•Concept ID:: C0231528
•: Sign or Symptom

Pain in muscle.

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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.

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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.

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Increased muscle glycogen content

MedGen UID:: 409660
•Concept ID:: C1968729
•: Finding

An increased amount of glycogen in muscle tissue.

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Reduced muscle enolase activity

MedGen UID:: 1841611
•Concept ID:: C5826543
•: Finding

Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.

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