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Deficiency of enolase

MedGen UID:
713875
•Concept ID:
C1291579
•
Disease or Syndrome
Synonyms: Deficiency of 2-phosphoglycerate dehydratase; Deficiency of phosphopyruvate hydratase; Erythrocyte Enolase Deficiency
SNOMED CT: Deficiency of phosphopyruvate hydratase (124618001); Deficiency of 2-phosphoglycerate dehydratase (124618001); Deficiency of enolase (124618001)

Definition

A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of enolase

Professional guidelines

PubMed

Laboratory criteria of perinatal damage of central nervous system at premature newborns.
Petrashenko VA, Loboda AM, Smiyan OI, Popov SV, Kasyan SN, Zaitsev IE, Redko EK
Wiad Lek 2019 Aug 31;72(8):1512-1516. PMID: 32012501
Autoimmune phenomena involving the pituitary gland in children: New developing data about diagnosis and treatment.
Romano A, Rigante D, Cipolla C
Autoimmun Rev 2019 Oct;18(10):102363. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102363. PMID: 31401342

Recent clinical studies

Etiology

Axin2 coupled excessive Wnt-glycolysis signaling mediates social defect in autism spectrum disorders.
Wang M, Xian P, Zheng W, Li Z, Chen A, Xiao H, Xu C, Wang F, Mao H, Meng H, Zhao Y, Luo C, Wang Y, Wu S
EMBO Mol Med 2023 Jun 7;15(6):e17101. Epub 2023 Apr 20 doi: 10.15252/emmm.202217101. PMID: 37078424Free PMC Article
Evaluation of serum neuron specific enolase levels among patients with primary and secondary burning mouth syndrome.
Kishore J, Shaikh F, Zubairi AM, Mirza S, Alqutub MN, AlMubarak AM, Abduljabbar T, Vohra F
Cephalalgia 2022 Feb;42(2):119-127. Epub 2021 Oct 13 doi: 10.1177/03331024211046613. PMID: 34644195
Laboratory criteria of perinatal damage of central nervous system at premature newborns.
Petrashenko VA, Loboda AM, Smiyan OI, Popov SV, Kasyan SN, Zaitsev IE, Redko EK
Wiad Lek 2019 Aug 31;72(8):1512-1516. PMID: 32012501
Autoimmune phenomena involving the pituitary gland in children: New developing data about diagnosis and treatment.
Romano A, Rigante D, Cipolla C
Autoimmun Rev 2019 Oct;18(10):102363. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102363. PMID: 31401342
Association of folate deficiency and selected tumor marker concentrations in long-term hexavalent chromium exposed population.
Wang TC, Song YS, Yu SF, Zhang J, Wang H, Gu YE, Chen T, Jia G
Int J Hyg Environ Health 2014 Jan;217(1):88-94. Epub 2013 Apr 3 doi: 10.1016/j.ijheh.2013.03.013. PMID: 23623598

Diagnosis

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I
Am J Hum Genet 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. PMID: 35931051Free PMC Article
Evaluation of serum neuron specific enolase levels among patients with primary and secondary burning mouth syndrome.
Kishore J, Shaikh F, Zubairi AM, Mirza S, Alqutub MN, AlMubarak AM, Abduljabbar T, Vohra F
Cephalalgia 2022 Feb;42(2):119-127. Epub 2021 Oct 13 doi: 10.1177/03331024211046613. PMID: 34644195
Autoimmune phenomena involving the pituitary gland in children: New developing data about diagnosis and treatment.
Romano A, Rigante D, Cipolla C
Autoimmun Rev 2019 Oct;18(10):102363. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102363. PMID: 31401342
Tarui disease and distal glycogenoses: clinical and genetic update.
Toscano A, Musumeci O
Acta Myol 2007 Oct;26(2):105-7. PMID: 18421897Free PMC Article
Dietary effects of copper and iron deficiency on rat intestine: a differential display proteome analysis.
Tosco A, Siciliano RA, Cacace G, Mazzeo MF, Capone R, Malorni A, Leone A, Marzullo L
J Proteome Res 2005 Sep-Oct;4(5):1781-8. doi: 10.1021/pr0501012. PMID: 16212433

Therapy

Acupoint thread-embedding for children with tic disorders of spleen deficiency and liver hyperactivity and its effect on serum level of NSE.
Jin YJ, Ge GL
Zhongguo Zhen Jiu 2023 Nov 12;43(11):1261-1265. doi: 10.13703/j.0255-2930.20230129-k0004. PMID: 37986249
Enolase represents a metabolic checkpoint controlling the differential exhaustion programmes of hepatitis virus-specific CD8(+) T cells.
Winkler F, Hipp AV, Ramirez C, Martin B, Villa M, Neuwirt E, Gorka O, Aerssens J, Johansson SE, Rana N, Llewellyn-Lacey S, Price DA, Panning M, Groß O, Pearce EL, Hermann CM, Schumann K, Hannibal L, Neumann-Haefelin C, Boettler T, Knolle P, Hofmann M, Wohlleber D, Thimme R, Bengsch B
Gut 2023 Oct;72(10):1971-1984. Epub 2023 Aug 4 doi: 10.1136/gutjnl-2022-328734. PMID: 37541771Free PMC Article
Contributions of Mass Spectrometry to the Identification of Low Molecular Weight Molecules Able to Reduce the Toxicity of Amyloid-β Peptide to Cell Cultures and Transgenic Mouse Models of Alzheimer's Disease.
Ştefănescu R, Stanciu GD, Luca A, Caba IC, Tamba BI, Mihai CT
Molecules 2019 Mar 24;24(6) doi: 10.3390/molecules24061167. PMID: 30909659Free PMC Article
Immunization with Porphyromonas gingivalis enolase induces autoimmunity to mammalian α-enolase and arthritis in DR4-IE-transgenic mice.
Kinloch AJ, Alzabin S, Brintnell W, Wilson E, Barra L, Wegner N, Bell DA, Cairns E, Venables PJ
Arthritis Rheum 2011 Dec;63(12):3818-23. doi: 10.1002/art.30639. PMID: 21953289
Metabolic and drug-induced muscle disorders.
Scarlato G, Comi GP
Curr Opin Neurol 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. PMID: 12351996

Prognosis

A randomized, double-blind trial comparing the effect of two blood pressure targets on global brain metabolism after out-of-hospital cardiac arrest.
Mølstrøm S, Nielsen TH, Nordstrøm CH, Forsse A, Møller S, Venø S, Mamaev D, Tencer T, Theódórsdóttir Á, Krøigård T, Møller J, Hassager C, Kjærgaard J, Schmidt H, Toft P
Crit Care 2023 Feb 24;27(1):73. doi: 10.1186/s13054-023-04376-y. PMID: 36823636Free PMC Article
Downregulated METTL14 accumulates BPTF that reinforces super-enhancers and distal lung metastasis via glycolytic reprogramming in renal cell carcinoma.
Zhang C, Chen L, Liu Y, Huang J, Liu A, Xu Y, Shen Y, He H, Xu D
Theranostics 2021;11(8):3676-3693. Epub 2021 Jan 26 doi: 10.7150/thno.55424. PMID: 33664855Free PMC Article
Autoimmune phenomena involving the pituitary gland in children: New developing data about diagnosis and treatment.
Romano A, Rigante D, Cipolla C
Autoimmun Rev 2019 Oct;18(10):102363. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102363. PMID: 31401342
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.
Cigna D, D'Anna C, Zizzo C, Francofonte D, Sorrentino I, Colomba P, Albeggiani G, Armini A, Bianchi L, Bini L, Duro G
Mol Biosyst 2013 Jun;9(6):1162-8. Epub 2013 Feb 5 doi: 10.1039/c3mb25402j. PMID: 23385635
Description of a new xenograft model of metastatic neuroblastoma using NOD/SCID/Il2rg null (NSG) mice.
Sartelet H, Durrieu L, Fontaine F, Nyalendo C, Haddad E
In Vivo 2012 Jan-Feb;26(1):19-29. PMID: 22210712

Clinical prediction guides

Enolase represents a metabolic checkpoint controlling the differential exhaustion programmes of hepatitis virus-specific CD8(+) T cells.
Winkler F, Hipp AV, Ramirez C, Martin B, Villa M, Neuwirt E, Gorka O, Aerssens J, Johansson SE, Rana N, Llewellyn-Lacey S, Price DA, Panning M, Groß O, Pearce EL, Hermann CM, Schumann K, Hannibal L, Neumann-Haefelin C, Boettler T, Knolle P, Hofmann M, Wohlleber D, Thimme R, Bengsch B
Gut 2023 Oct;72(10):1971-1984. Epub 2023 Aug 4 doi: 10.1136/gutjnl-2022-328734. PMID: 37541771Free PMC Article
Methylmalonic Acid Compromises Respiration and Reduces the Expression of Differentiation Markers of SH-SY5Y Human Neuroblastoma Cells.
da Costa RT, Dos Santos MB, Silva ICS, de Almeida RP, Teruel MS, Carrettiero DC, Ribeiro CAJ
ACS Chem Neurosci 2021 Jul 21;12(14):2608-2618. Epub 2021 Jun 30 doi: 10.1021/acschemneuro.1c00119. PMID: 34191487
Downregulated METTL14 accumulates BPTF that reinforces super-enhancers and distal lung metastasis via glycolytic reprogramming in renal cell carcinoma.
Zhang C, Chen L, Liu Y, Huang J, Liu A, Xu Y, Shen Y, He H, Xu D
Theranostics 2021;11(8):3676-3693. Epub 2021 Jan 26 doi: 10.7150/thno.55424. PMID: 33664855Free PMC Article
Decrease of neuronal FKBP4/FKBP52 modulates perinuclear lysosomal positioning and MAPT/Tau behavior during MAPT/Tau-induced proteotoxic stress.
Chambraud B, Daguinot C, Guillemeau K, Genet M, Dounane O, Meduri G, Poüs C, Baulieu EE, Giustiniani J
Autophagy 2021 Nov;17(11):3491-3510. Epub 2021 Jan 25 doi: 10.1080/15548627.2021.1875611. PMID: 33459145Free PMC Article
Metabolic and drug-induced muscle disorders.
Scarlato G, Comi GP
Curr Opin Neurol 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. PMID: 12351996

Recent systematic reviews

A comprehensive review of hypomagnesemia.
Ehrenpreis ED, Jarrouj G, Meader R, Wagner C, Ellis M
Dis Mon 2022 Feb;68(2):101285. Epub 2021 Sep 10 doi: 10.1016/j.disamonth.2021.101285. PMID: 34511254

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