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Reduced tissue acetyl-CoA carboxylase activity

MedGen UID:
1054895
Concept ID:
CN377026
Finding
Synonym: Reduced hepatic acetyl-CoA carboxylase activity
 
HPO: HP:6000430

Definition

Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced tissue acetyl-CoA carboxylase activity

Conditions with this feature

Acetyl-CoA: carboxylase deficiency
MedGen UID:
124338
Concept ID:
C0268603
Disease or Syndrome
Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is an autosomal recessive disorder characterized by hypotonia and global developmental delay (summary by Shafieipour et al., 2023).

Professional guidelines

PubMed

Tacke F, Puengel T, Loomba R, Friedman SL
J Hepatol 2023 Aug;79(2):552-566. Epub 2023 Apr 14 doi: 10.1016/j.jhep.2023.03.038. PMID: 37061196
Wang M, Ma LJ, Yang Y, Xiao Z, Wan JB
Crit Rev Food Sci Nutr 2019;59(sup1):S116-S129. Epub 2018 Dec 22 doi: 10.1080/10408398.2018.1544542. PMID: 30580553
Kusunoki J, Kanatani A, Moller DE
Endocrine 2006 Feb;29(1):91-100. doi: 10.1385/ENDO:29:1:91. PMID: 16622296

Recent clinical studies

Etiology

Dai Y, Qiu C, Zhang D, Li M, Liu W
Lipids Health Dis 2024 Jan 25;23(1):28. doi: 10.1186/s12944-024-02014-2. PMID: 38273354Free PMC Article
Hecht FB, Teixeira CJ, de Souza DN, Mesquita FPN, Roso REDV, Sodré FS, Veronesi VB, da Rocha DF, Menezes YGD, Pioli MR, Bordin S, Cecatti JG, Luz AG, Anhê GF
Biomed Pharmacother 2021 Dec;144:112355. Epub 2021 Oct 28 doi: 10.1016/j.biopha.2021.112355. PMID: 34794232
Wang Y, Meng J, Men L, An B, Jin X, He W, Lu S, Li N
Biol Pharm Bull 2020 Nov 1;43(11):1749-1759. Epub 2020 Sep 4 doi: 10.1248/bpb.b20-00477. PMID: 32893253
Song B, Zhong YZ, Zheng CB, Li FN, Duan YH, Deng JP
J Appl Microbiol 2019 Nov;127(5):1546-1555. Epub 2019 Aug 15 doi: 10.1111/jam.14389. PMID: 31325215
Højlund K, Mustard KJ, Staehr P, Hardie DG, Beck-Nielsen H, Richter EA, Wojtaszewski JF
Am J Physiol Endocrinol Metab 2004 Feb;286(2):E239-44. Epub 2003 Oct 7 doi: 10.1152/ajpendo.00326.2003. PMID: 14532170

Diagnosis

Szkudelski T, Szkudelska K
Int J Mol Sci 2023 Dec 28;25(1) doi: 10.3390/ijms25010431. PMID: 38203600Free PMC Article
Pratelli G, Di Liberto D, Carlisi D, Emanuele S, Giuliano M, Notaro A, De Blasio A, Calvaruso G, D'Anneo A, Lauricella M
Int J Mol Sci 2023 Mar 12;24(6) doi: 10.3390/ijms24065419. PMID: 36982490Free PMC Article
Wang M, Ma LJ, Yang Y, Xiao Z, Wan JB
Crit Rev Food Sci Nutr 2019;59(sup1):S116-S129. Epub 2018 Dec 22 doi: 10.1080/10408398.2018.1544542. PMID: 30580553
Loureiro LMR, Reis CEG, da Costa THM
Int J Sport Nutr Exerc Metab 2018 May 1;28(3):284-293. Epub 2018 Jun 12 doi: 10.1123/ijsnem.2017-0342. PMID: 29345166
Jobgen WS, Fried SK, Fu WJ, Meininger CJ, Wu G
J Nutr Biochem 2006 Sep;17(9):571-88. Epub 2006 Jan 9 doi: 10.1016/j.jnutbio.2005.12.001. PMID: 16524713

Therapy

Szkudelski T, Szkudelska K
Int J Mol Sci 2023 Dec 28;25(1) doi: 10.3390/ijms25010431. PMID: 38203600Free PMC Article
Miguel V, Rey-Serra C, Tituaña J, Sirera B, Alcalde-Estévez E, Herrero JI, Ranz I, Fernández L, Castillo C, Sevilla L, Nagai J, Reimer KC, Jansen J, Kramann R, Costa IG, Castro A, Sancho D, Rodríguez González-Moro JM, Lamas S
Redox Biol 2023 Dec;68:102957. Epub 2023 Nov 3 doi: 10.1016/j.redox.2023.102957. PMID: 37977043Free PMC Article
Hecht FB, Teixeira CJ, de Souza DN, Mesquita FPN, Roso REDV, Sodré FS, Veronesi VB, da Rocha DF, Menezes YGD, Pioli MR, Bordin S, Cecatti JG, Luz AG, Anhê GF
Biomed Pharmacother 2021 Dec;144:112355. Epub 2021 Oct 28 doi: 10.1016/j.biopha.2021.112355. PMID: 34794232
Wang M, Ma LJ, Yang Y, Xiao Z, Wan JB
Crit Rev Food Sci Nutr 2019;59(sup1):S116-S129. Epub 2018 Dec 22 doi: 10.1080/10408398.2018.1544542. PMID: 30580553
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

Prognosis

Zhang X, Zhang Y, Gao W, Guo Z, Wang K, Liu S, Duan Z, Chen Y
Life Sci 2021 Jul 15;277:119487. Epub 2021 Apr 20 doi: 10.1016/j.lfs.2021.119487. PMID: 33862107
Al-Zoubi M, Chipitsyna G, Saxena S, Sarosiek K, Gandhi A, Kang CY, Relles D, Andrelsendecki J, Hyslop T, Yeo CJ, Arafat HA
J Gastrointest Surg 2014 Feb;18(2):257-68; discussion 268. Epub 2013 Oct 4 doi: 10.1007/s11605-013-2370-7. PMID: 24091913
So M, Gaidhu MP, Maghdoori B, Ceddia RB
Lipids Health Dis 2011 Jun 16;10:99. doi: 10.1186/1476-511X-10-99. PMID: 21679418Free PMC Article
Calvisi DF, Wang C, Ho C, Ladu S, Lee SA, Mattu S, Destefanis G, Delogu S, Zimmermann A, Ericsson J, Brozzetti S, Staniscia T, Chen X, Dombrowski F, Evert M
Gastroenterology 2011 Mar;140(3):1071-83. Epub 2010 Dec 11 doi: 10.1053/j.gastro.2010.12.006. PMID: 21147110Free PMC Article
Hurley RL, Anderson KA, Franzone JM, Kemp BE, Means AR, Witters LA
J Biol Chem 2005 Aug 12;280(32):29060-6. Epub 2005 Jun 24 doi: 10.1074/jbc.M503824200. PMID: 15980064

Clinical prediction guides

Miguel V, Rey-Serra C, Tituaña J, Sirera B, Alcalde-Estévez E, Herrero JI, Ranz I, Fernández L, Castillo C, Sevilla L, Nagai J, Reimer KC, Jansen J, Kramann R, Costa IG, Castro A, Sancho D, Rodríguez González-Moro JM, Lamas S
Redox Biol 2023 Dec;68:102957. Epub 2023 Nov 3 doi: 10.1016/j.redox.2023.102957. PMID: 37977043Free PMC Article
Saisomboon S, Kariya R, Boonnate P, Sawanyawisuth K, Cha'on U, Luvira V, Chamgramol Y, Pairojkul C, Seubwai W, Silsirivanit A, Wongkham S, Okada S, Jitrapakdee S, Vaeteewoottacharn K
Biochim Biophys Acta Mol Basis Dis 2023 Jun;1869(5):166694. Epub 2023 Mar 25 doi: 10.1016/j.bbadis.2023.166694. PMID: 36972768
Zois CE, Hendriks AM, Haider S, Pires E, Bridges E, Kalamida D, Voukantsis D, Lagerholm BC, Fehrmann RSN, den Dunnen WFA, Tarasov AI, Baba O, Morris J, Buffa FM, McCullagh JSO, Jalving M, Harris AL
Cell Death Dis 2022 Jun 28;13(6):573. doi: 10.1038/s41419-022-05005-2. PMID: 35764612Free PMC Article
Loureiro LMR, Reis CEG, da Costa THM
Int J Sport Nutr Exerc Metab 2018 May 1;28(3):284-293. Epub 2018 Jun 12 doi: 10.1123/ijsnem.2017-0342. PMID: 29345166
Jeukendrup AE
Ann N Y Acad Sci 2002 Jun;967:217-35. doi: 10.1111/j.1749-6632.2002.tb04278.x. PMID: 12079850

Recent systematic reviews

Loureiro LMR, Reis CEG, da Costa THM
Int J Sport Nutr Exerc Metab 2018 May 1;28(3):284-293. Epub 2018 Jun 12 doi: 10.1123/ijsnem.2017-0342. PMID: 29345166

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