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Mitochondrial malic enzyme reduced

MedGen UID:
383965
Concept ID:
C1856697
Finding
Synonym: Decreased mitochondrial malic enzyme
 
HPO: HP:0003232

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial malic enzyme reduced

Conditions with this feature

Friedreich ataxia 1
MedGen UID:
383962
Concept ID:
C1856689
Disease or Syndrome
Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.
Friedreich ataxia 2
MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.

Professional guidelines

PubMed

Kang JH, Lee SH, Lee JS, Nam B, Seong TW, Son J, Jang H, Hong KM, Lee C, Kim SY
Oncotarget 2016 Aug 2;7(31):49397-49410. doi: 10.18632/oncotarget.10354. PMID: 27384481Free PMC Article

Recent clinical studies

Etiology

Schöpf B, Weissensteiner H, Schäfer G, Fazzini F, Charoentong P, Naschberger A, Rupp B, Fendt L, Bukur V, Giese I, Sorn P, Sant'Anna-Silva AC, Iglesias-Gonzalez J, Sahin U, Kronenberg F, Gnaiger E, Klocker H
Nat Commun 2020 Mar 20;11(1):1487. doi: 10.1038/s41467-020-15237-5. PMID: 32198407Free PMC Article
Kang JH, Lee SH, Lee JS, Nam B, Seong TW, Son J, Jang H, Hong KM, Lee C, Kim SY
Oncotarget 2016 Aug 2;7(31):49397-49410. doi: 10.18632/oncotarget.10354. PMID: 27384481Free PMC Article

Diagnosis

Del Prado L, Jaraíz-Rodríguez M, Agro M, Zamora-Dorta M, Azpiazu N, Calleja M, Lopez-Manzaneda M, de Juan-Sanz J, Fernández-Rodrigo A, Esteban JA, Girona M, Quintana A, Balsa E
Nat Commun 2024 Oct 7;15(1):8682. doi: 10.1038/s41467-024-52968-1. PMID: 39375345Free PMC Article
Koch J, Broeks MH, Gautschi M, Jans J, Laemmle A
Mol Genet Metab 2024 Aug;142(4):108520. Epub 2024 Jun 24 doi: 10.1016/j.ymgme.2024.108520. PMID: 38945121
Ren JG, Seth P, Clish CB, Lorkiewicz PK, Higashi RM, Lane AN, Fan TW, Sukhatme VP
Sci Rep 2014 Jun 24;4:5414. doi: 10.1038/srep05414. PMID: 24957098Free PMC Article
Yin F, Sancheti H, Cadenas E
Antioxid Redox Signal 2012 Dec 15;17(12):1714-27. Epub 2012 Jun 11 doi: 10.1089/ars.2012.4639. PMID: 22530585Free PMC Article
McKeehan WL, McKeehan KA
J Cell Physiol 1982 Feb;110(2):142-8. doi: 10.1002/jcp.1041100206. PMID: 7068771

Therapy

Sarfraz I, Rasul A, Hussain G, Hussain SM, Ahmad M, Nageen B, Jabeen F, Selamoglu Z, Ali M
IUBMB Life 2018 Nov;70(11):1076-1083. Epub 2018 Aug 29 doi: 10.1002/iub.1930. PMID: 30160039
Kang JH, Lee SH, Lee JS, Nam B, Seong TW, Son J, Jang H, Hong KM, Lee C, Kim SY
Oncotarget 2016 Aug 2;7(31):49397-49410. doi: 10.18632/oncotarget.10354. PMID: 27384481Free PMC Article
Bescós R, Sureda A, Tur JA, Pons A
Sports Med 2012 Feb 1;42(2):99-117. doi: 10.2165/11596860-000000000-00000. PMID: 22260513

Prognosis

Sarfraz I, Rasul A, Hussain G, Hussain SM, Ahmad M, Nageen B, Jabeen F, Selamoglu Z, Ali M
IUBMB Life 2018 Nov;70(11):1076-1083. Epub 2018 Aug 29 doi: 10.1002/iub.1930. PMID: 30160039

Clinical prediction guides

Del Prado L, Jaraíz-Rodríguez M, Agro M, Zamora-Dorta M, Azpiazu N, Calleja M, Lopez-Manzaneda M, de Juan-Sanz J, Fernández-Rodrigo A, Esteban JA, Girona M, Quintana A, Balsa E
Nat Commun 2024 Oct 7;15(1):8682. doi: 10.1038/s41467-024-52968-1. PMID: 39375345Free PMC Article
Ryan EM, Sadiku P, Coelho P, Watts ER, Zhang A, Howden AJM, Sanchez-Garcia MA, Bewley M, Cole J, McHugh BJ, Vermaelen W, Ghesquiere B, Carmeliet P, Rodriguez Blanco G, Von Kriegsheim A, Sanchez Y, Rumsey W, Callahan JF, Cooper G, Parkinson N, Baillie K, Cantrell DA, McCafferty J, Choudhury G, Singh D, Dockrell DH, Whyte MKB, Walmsley SR
Am J Respir Crit Care Med 2023 Apr 15;207(8):998-1011. doi: 10.1164/rccm.202203-0482OC. PMID: 36724365Free PMC Article
Matheny RW Jr, Kolb AL, Geddis AV, Roberts BM
Physiol Rep 2022 Nov;10(21):e15481. doi: 10.14814/phy2.15481. PMID: 36325583Free PMC Article
Lindquist C, Bjørndal B, Bakke HG, Slettom G, Karoliussen M, Rustan AC, Thoresen GH, Skorve J, Nygård OK, Berge RK
PLoS One 2019;14(9):e0222558. Epub 2019 Sep 24 doi: 10.1371/journal.pone.0222558. PMID: 31550253Free PMC Article
Unnikrishnan LS, Raj RK
Int J Parasitol 1995 Jul;25(7):779-85. doi: 10.1016/0020-7519(94)00210-f. PMID: 7558563

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