Glycogen storage disease due to muscle beta-enolase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ENOLASE-BETA DEFICIENCY
ENOLASE 3 DEFICIENCY
GSD XIII
GSDXIII
GSD13
Glycogenosis due to muscle beta-enolase deficiency
Muscular enolase deficiency
Muscle enolase deficiency
GSD due to muscle beta-enolase deficiency
Glycogenosis type 13
Number of Symptoms 8
OrphanetNr: 99849
OMIM Id: 612932
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease
Muscular glycogenosis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
 (HPO:0003546) Exercise intolerance 62 / 7739
3
 (HPO:0009051) Increased muscle glycogen content 8 / 7739
4
 (HPO:0003326) Myalgia 143 / 7739
5
 (HPO:0003581) Adult onset 117 / 7739
6
 (OMIM) Decreased ENO3 activity 1 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Muscle biopsy shows glycogen storage 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Comi et al. (2001) described a 47-year-old man affected with exercise intolerance, myalgias, and increased serum creatine kinase. No rise of serum lactate was observed with the ischemic forearm exercise. Ultrastructural analysis showed focal sarcoplasmic accumulation of glycogen-beta ...
Molecular genetics OMIM In a man with GSD13, Comi et al. (2001) identified compound heterozygosity for 2 mutations in the ENO3 gene (131370.0001 and 131370.0002). Immunohistochemistry and immunoblotting detected dramatically reduced beta-enolase protein in this patient, while alpha-enolase was normally represented. ...