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Decreased pyruvate carboxylase activity

MedGen UID:
871167
Concept ID:
C4025641
Finding
HPO: HP:0003209

Definition

A decreased rate of pyruvate carboxylase activity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased pyruvate carboxylase activity

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

MacDonald MJ, Efendić S, Ostenson CG
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Recent clinical studies

Etiology

Liu C, Zhou X, Ju H, Zhang Y
Life Sci 2023 Aug 15;327:121817. Epub 2023 Jun 2 doi: 10.1016/j.lfs.2023.121817. PMID: 37270169
Williams HC, Farmer BC, Piron MA, Walsh AE, Bruntz RC, Gentry MS, Sun RC, Johnson LA
Neurobiol Dis 2020 Mar;136:104742. Epub 2020 Jan 11 doi: 10.1016/j.nbd.2020.104742. PMID: 31931141Free PMC Article
Yuan X, Dong D, Li Z, Wu B
Pharmacol Res 2019 Mar;141:310-318. Epub 2019 Jan 11 doi: 10.1016/j.phrs.2019.01.010. PMID: 30639375
Zheng X, Ke Y, Feng A, Yuan P, Zhou J, Yu Y, Wang X, Feng W
Molecules 2016 May 13;21(5) doi: 10.3390/molecules21050624. PMID: 27187341Free PMC Article
Kim YH, Kim SS
Mol Cells 2003 Aug 31;16(1):67-73. PMID: 14503847

Diagnosis

Liu C, Zhou X, Ju H, Zhang Y
Life Sci 2023 Aug 15;327:121817. Epub 2023 Jun 2 doi: 10.1016/j.lfs.2023.121817. PMID: 37270169
Ju Y, Untereiner A, Wu L, Yang G
Biochim Biophys Acta 2015 Nov;1850(11):2293-303. Epub 2015 Aug 11 doi: 10.1016/j.bbagen.2015.08.003. PMID: 26272431
Manco M, Calvani M, Mingrone G
Diabetes Obes Metab 2004 Nov;6(6):402-13. doi: 10.1111/j.1462-8902.2004.00356.x. PMID: 15479216
Kim YH, Kim SS
Mol Cells 2003 Aug 31;16(1):67-73. PMID: 14503847
Jeukendrup AE
Ann N Y Acad Sci 2002 Jun;967:217-35. doi: 10.1111/j.1749-6632.2002.tb04278.x. PMID: 12079850

Therapy

Yuan X, Dong D, Li Z, Wu B
Pharmacol Res 2019 Mar;141:310-318. Epub 2019 Jan 11 doi: 10.1016/j.phrs.2019.01.010. PMID: 30639375
Zheng X, Ke Y, Feng A, Yuan P, Zhou J, Yu Y, Wang X, Feng W
Molecules 2016 May 13;21(5) doi: 10.3390/molecules21050624. PMID: 27187341Free PMC Article
Sellers K, Fox MP, Bousamra M 2nd, Slone SP, Higashi RM, Miller DM, Wang Y, Yan J, Yuneva MO, Deshpande R, Lane AN, Fan TW
J Clin Invest 2015 Feb;125(2):687-98. Epub 2015 Jan 20 doi: 10.1172/JCI72873. PMID: 25607840Free PMC Article
Mori J, Zhang L, Oudit GY, Lopaschuk GD
J Mol Cell Cardiol 2013 Oct;63:98-106. Epub 2013 Jul 22 doi: 10.1016/j.yjmcc.2013.07.010. PMID: 23886814
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Am J Clin Nutr 1995 Feb;61(2):385-91. doi: 10.1093/ajcn/61.2.385. PMID: 7840079

Prognosis

Jois T, Howard V, Youngs K, Cowley MA, Sleeman MW
PLoS One 2016;11(12):e0168797. Epub 2016 Dec 19 doi: 10.1371/journal.pone.0168797. PMID: 27992582Free PMC Article
Dean JT, Rizk ML, Tan Y, Dipple KM, Liao JC
Biophys J 2010 Apr 21;98(8):1385-95. doi: 10.1016/j.bpj.2009.12.4308. PMID: 20409457Free PMC Article
Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A, Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH
Am J Hum Genet 2001 Feb;68(2):386-96. Epub 2001 Jan 10 doi: 10.1086/318196. PMID: 11156534Free PMC Article
McCarty MF
Med Hypotheses 1994 Apr;42(4):215-25. doi: 10.1016/0306-9877(94)90120-1. PMID: 8072427
DeVivo DC, Haymond MW, Leckie MP, Bussman YL, McDougal DB Jr, Pagliara AS
J Clin Endocrinol Metab 1977 Dec;45(6):1281-96. doi: 10.1210/jcem-45-6-1281. PMID: 412860

Clinical prediction guides

Liu C, Zhou X, Pan Y, Liu Y, Zhang Y
BMC Cancer 2021 Jun 22;21(1):722. doi: 10.1186/s12885-021-08499-9. PMID: 34158007Free PMC Article
Song L, Zhong P, Zhu X, Zhou R, Gao M, Lan Q, Chen J, Chen Y, Zhao W
Eur J Pharmacol 2021 Apr 15;897:173927. Epub 2021 Feb 7 doi: 10.1016/j.ejphar.2021.173927. PMID: 33567320
Williams HC, Farmer BC, Piron MA, Walsh AE, Bruntz RC, Gentry MS, Sun RC, Johnson LA
Neurobiol Dis 2020 Mar;136:104742. Epub 2020 Jan 11 doi: 10.1016/j.nbd.2020.104742. PMID: 31931141Free PMC Article
Mock DM
J Nutr Biochem 2005 Jul;16(7):435-7. doi: 10.1016/j.jnutbio.2005.03.022. PMID: 15992686
DeVivo DC, Haymond MW, Leckie MP, Bussman YL, McDougal DB Jr, Pagliara AS
J Clin Endocrinol Metab 1977 Dec;45(6):1281-96. doi: 10.1210/jcem-45-6-1281. PMID: 412860

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