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Reduced muscle enolase activity

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

Synonym:	Muscle biopsy: beta-enolase activity low

HPO:	HP:0034633

Definition

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. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced muscle enolase activity

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal tissue enzyme concentration or activity
      - Abnormal enzyme activity in muscle tissue
        Reduced muscle enolase activity

Conditions with this feature

Glycogen storage disease due to muscle beta-enolase deficiency

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

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.

See: Condition Record

Glycogen storage disease due to muscle beta-enolase deficiency

Recent clinical studies

Etiology

FHL2 protein is a novel co-repressor of nuclear receptor Nur77.

Kurakula K, van der Wal E, Geerts D, van Tiel CM, de Vries CJ
J Biol Chem 2011 Dec 30;286(52):44336-43. Epub 2011 Nov 2 doi: 10.1074/jbc.M111.308999. PMID: 22049082 Free PMC Article

Enteric neuropathology of the terminal ileum in patients with intractable slow-transit constipation.

Bassotti G, Villanacci V, Cathomas G, Maurer CA, Fisogni S, Cadei M, Baron L, Morelli A, Valloncini E, Salerni B
Hum Pathol 2006 Oct;37(10):1252-8. Epub 2006 Jul 20 doi: 10.1016/j.humpath.2006.04.027. PMID: 16949932

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Diagnosis

Glucose-dependent aerobic glycolysis contributes to recruiting viral components into HIV-1 particles to maintain infectivity.

Kishimoto N, Yamamoto K, Abe T, Yasuoka N, Takamune N, Misumi S
Biochem Biophys Res Commun 2021 Apr 16;549:187-193. Epub 2021 Mar 3 doi: 10.1016/j.bbrc.2021.02.071. PMID: 33676187

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.

Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
Ann Neurol 2001 Aug;50(2):202-7. doi: 10.1002/ana.1095. PMID: 11506403

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Therapy

Chronic Administration of Pimozide Fails to Attenuate Motor and Pathological Deficits in Two Mouse Models of Amyotrophic Lateral Sclerosis.

Pozzi S, Thammisetty SS, Julien JP
Neurotherapeutics 2018 Jul;15(3):715-727. doi: 10.1007/s13311-018-0634-3. PMID: 29790082 Free PMC Article

Proteomic biomarkers of peripheral blood mononuclear cells obtained from postmenopausal women undergoing an intervention with soy isoflavones.

Fuchs D, Vafeiadou K, Hall WL, Daniel H, Williams CM, Schroot JH, Wenzel U
Am J Clin Nutr 2007 Nov;86(5):1369-75. doi: 10.1093/ajcn/86.5.1369. PMID: 17991648

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Prognosis

Motor neuron degeneration in a 20-week male fetus: spinal muscular atrophy type 0.

Sarnat HB, Trevenen CL
Can J Neurol Sci 2007 May;34(2):215-20. doi: 10.1017/s0317167100006077. PMID: 17598601

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Clinical prediction guides

Overexpression of RCAN1 isoform 4 in mouse neurons leads to a moderate behavioral impairment.

Bhoiwala DL, Koleilat I, Qian J, Beyer B, Hushmendy SF, Mathew A, Bhoiwala DL, Ferland RJ, Crawford DR
Neurol Res 2013 Jan;35(1):79-89. doi: 10.1179/1743132812Y.0000000117. PMID: 23317802

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.

Production and analysis of transgenic mice with ectopic expression of parvalbumin.

Castillo MB, Celio MR, Andressen C, Gotzos V, Rülicke T, Berger MC, Weber J, Berchtold MW
Arch Biochem Biophys 1995 Feb 20;317(1):292-8. doi: 10.1006/abbi.1995.1165. PMID: 7532934

See all (3)

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Reduced muscle enolase activity

Definition

Term Hierarchy

Conditions with this feature

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

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