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Decreased delta-aminolevulinate dehydratase activity

MedGen UID:
1841742
Concept ID:
C5781955
Finding
Synonyms: Delta-aminolevulinate dehydratase activity low; Delta-aminolevulinate dehydratase deficiency
 
HPO: HP:0034544

Definition

Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased delta-aminolevulinate dehydratase activity

Professional guidelines

PubMed

Ricci A, Ventura P
Expert Rev Clin Pharmacol 2022 Apr;15(4):383-393. Epub 2022 May 11 doi: 10.1080/17512433.2022.2075848. PMID: 35531651
Abdel Hamid OI, Khayal EEH, Tolba SAR, Orabi EE
Environ Sci Pollut Res Int 2020 Dec;27(36):44709-44723. Epub 2020 Jul 24 doi: 10.1007/s11356-020-10182-8. PMID: 32710353
Fraunberg MVUZ, Pischik E, Udd L, Kauppinen R
Medicine (Baltimore) 2005 Jan;84(1):35-47. doi: 10.1097/01.md.0000152455.38510.af. PMID: 15643298

Recent clinical studies

Etiology

Bulegon JS, Weber AAP, de Souza MD, Viero FT, Pillat MM, Gonçalves TL
Pathog Dis 2023 Jan 17;81 doi: 10.1093/femspd/ftad028. PMID: 37816669
Yasuda M, Keel S, Balwani M
Blood 2023 Nov 9;142(19):1589-1599. doi: 10.1182/blood.2022018662. PMID: 37027823Free PMC Article
de Paula HL, de Lucca L, Vendrame SA, Wess LC, Dos Santos Stein C, Moresco RN, Beck ST, de Lima Gonçalves T
Microb Pathog 2022 Mar;164:105455. Epub 2022 Feb 24 doi: 10.1016/j.micpath.2022.105455. PMID: 35219844
Vendrame SA, de Lucca L, de Paula HL, Stein CDS, Gallarreta FMP, Konopka CK, Moresco RN, Gonçalves TL
J Matern Fetal Neonatal Med 2021 Dec;34(24):4035-4040. Epub 2019 Dec 18 doi: 10.1080/14767058.2019.1702957. PMID: 31851550
De Lucca L, Rodrigues F, Jantsch LB, Neme WS, Gallarreta FM, Gonçalves TL
Int J Environ Res Public Health 2016 May 3;13(5) doi: 10.3390/ijerph13050463. PMID: 27153075Free PMC Article

Diagnosis

Morán-Jiménez MJ, Borrero-Corte MJ, Jara-Rubio F, García-Pastor I, Díaz-Díaz S, Castelbón-Fernandez FJ, Enríquez-de-Salamanca R, Méndez M
Genes (Basel) 2020 Aug 12;11(8) doi: 10.3390/genes11080924. PMID: 32806544Free PMC Article
Sakai T
Ind Health 2000 Apr;38(2):127-42. doi: 10.2486/indhealth.38.127. PMID: 10812836
Fernández-Cuartero B, Rebollar JL, Batlle A, Enriquez de Salamanca R
Int J Biochem Cell Biol 1999 Mar-Apr;31(3-4):479-88. doi: 10.1016/s1357-2725(98)00145-9. PMID: 10224671
Sassa S
Semin Liver Dis 1998;18(1):95-101. doi: 10.1055/s-2007-1007145. PMID: 9516683
Astrin KH, Bishop DF, Wetmur JG, Kaul B, Davidow B, Desnick RJ
Ann N Y Acad Sci 1987;514:23-9. doi: 10.1111/j.1749-6632.1987.tb48757.x. PMID: 3442386

Therapy

Adepu VK, Kumar HSS, Ravibabu K, Nagaraju R
J Biol Inorg Chem 2024 Apr;29(3):375-383. Epub 2024 Jan 30 doi: 10.1007/s00775-023-02042-w. PMID: 38289478
De Lucca L, Rodrigues F, Jantsch LB, Neme WS, Gallarreta FM, Gonçalves TL
Int J Environ Res Public Health 2016 May 3;13(5) doi: 10.3390/ijerph13050463. PMID: 27153075Free PMC Article
Zanini D, Pelinson LP, Schmatz R, Belmonte Pereira L, Curry Martins C, Baldissareli J, Pires Amaral G, Antunes Soares FA, Brenner Reetz LG, Araújo Mdo C, Chiesa J, Morsch VM, Bitencourt Rosa Leal D, Schetinger MR
Biomed Pharmacother 2014 Jun;68(5):603-9. Epub 2014 Apr 28 doi: 10.1016/j.biopha.2014.04.005. PMID: 24855033
Gonçalves TL, Benvegnú DM, Bonfanti G, Frediani AV, Rocha JB
Pharmacol Res 2009 Apr;59(4):279-84. Epub 2008 Dec 30 doi: 10.1016/j.phrs.2008.12.005. PMID: 19162187
Sakai T
Ind Health 2000 Apr;38(2):127-42. doi: 10.2486/indhealth.38.127. PMID: 10812836

Prognosis

Weber AAP, Bulegon JS, de Souza MD, Vendrame SA, Venturini L, Mombaque Dos Santos W, Gonçalves TL
Diagn Microbiol Infect Dis 2023 Mar;105(3):115886. Epub 2022 Dec 30 doi: 10.1016/j.diagmicrobio.2022.115886. PMID: 36657361Free PMC Article
de Lucca L, Jantsch LB, Vendrame SA, de Paula HL, Dos Santos Stein C, Gallarreta FMP, Moresco RN, de Lima Gonçalves T
Matern Child Health J 2022 Oct;26(10):2155-2168. Epub 2022 Aug 15 doi: 10.1007/s10995-022-03475-6. PMID: 35969329
Mani MS, Puranik A, Kabekkodu SP, Joshi MB, Dsouza HS
Hum Exp Toxicol 2021 Jun;40(6):897-914. Epub 2020 Nov 25 doi: 10.1177/0960327120975451. PMID: 33233953
Fraunberg MVUZ, Pischik E, Udd L, Kauppinen R
Medicine (Baltimore) 2005 Jan;84(1):35-47. doi: 10.1097/01.md.0000152455.38510.af. PMID: 15643298
Mustajoki S, Laine M, Lahtela M, Mustajoki P, Peltonen L, Kauppinen R
Mol Med 2000 Aug;6(8):670-9. PMID: 11055586Free PMC Article

Clinical prediction guides

Weber AAP, Bulegon JS, de Souza MD, Vendrame SA, Venturini L, Mombaque Dos Santos W, Gonçalves TL
Diagn Microbiol Infect Dis 2023 Mar;105(3):115886. Epub 2022 Dec 30 doi: 10.1016/j.diagmicrobio.2022.115886. PMID: 36657361Free PMC Article
De Lucca L, Rodrigues F, Jantsch LB, Neme WS, Gallarreta FM, Gonçalves TL
Int J Environ Res Public Health 2016 May 3;13(5) doi: 10.3390/ijerph13050463. PMID: 27153075Free PMC Article
Polachini CR, Spanevello RM, Zanini D, Baldissarelli J, Pereira LB, Schetinger MR, da Cruz IB, Assmann CE, Bagatini MD, Morsch VM
Neurotox Res 2016 Feb;29(2):230-42. Epub 2015 Dec 21 doi: 10.1007/s12640-015-9584-2. PMID: 26690779
Baierle M, Charão MF, Göethel G, Barth A, Fracasso R, Bubols G, Sauer E, Campanharo SC, Rocha RC, Saint'Pierre TD, Bordignon S, Zibetti M, Trentini CM, Avila DS, Gioda A, Garcia SC
Int J Environ Res Public Health 2014 Oct 17;11(10):10851-67. doi: 10.3390/ijerph111010851. PMID: 25329536Free PMC Article
Fernández-Cuartero B, Rebollar JL, Batlle A, Enriquez de Salamanca R
Int J Biochem Cell Biol 1999 Mar-Apr;31(3-4):479-88. doi: 10.1016/s1357-2725(98)00145-9. PMID: 10224671

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