U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dicarboxylic acidemia

MedGen UID:
868025
Concept ID:
C4022416
Finding
HPO: HP:0040145

Professional guidelines

PubMed

Peng M, Fang X, Huang Y, Cai Y, Liang C, Lin R, Liu L
J Chromatogr A 2013 Dec 6;1319:97-106. Epub 2013 Oct 16 doi: 10.1016/j.chroma.2013.10.036. PMID: 24169039
Shimizu N, Yamaguchi S, Orii T
Acta Paediatr Jpn 1994 Apr;36(2):139-45. doi: 10.1111/j.1442-200x.1994.tb03149.x. PMID: 8203256
Nakamura E, Rosenberg LE, Tanaka K
Clin Chim Acta 1976 Apr 15;68(2):127-40. doi: 10.1016/0009-8981(76)90412-5. PMID: 1261058

Recent clinical studies

Etiology

Wright EL, Baker PR
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz183. PMID: 32126138
Maeda Y, Nakajima Y, Gotoh K, Hotta Y, Kataoka T, Sugiyama N, Shirai N, Ito T, Kimura K
Bioorg Med Chem Lett 2016 Jan 1;26(1):121-5. Epub 2015 Nov 10 doi: 10.1016/j.bmcl.2015.11.016. PMID: 26597535
Peng M, Fang X, Huang Y, Cai Y, Liang C, Lin R, Liu L
J Chromatogr A 2013 Dec 6;1319:97-106. Epub 2013 Oct 16 doi: 10.1016/j.chroma.2013.10.036. PMID: 24169039
Peng M, Liu L, Jiang M, Liang C, Zhao X, Cai Y, Sheng H, Ou Z, Luo H
J Chromatogr B Analyt Technol Biomed Life Sci 2013 Aug 1;932:12-8. Epub 2013 Jun 2 doi: 10.1016/j.jchromb.2013.05.028. PMID: 23816563
Chalmers RA, Roe CR, Stacey TE, Hoppel CL
Pediatr Res 1984 Dec;18(12):1325-8. doi: 10.1203/00006450-198412000-00021. PMID: 6441143

Diagnosis

Wright EL, Baker PR
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz183. PMID: 32126138
Han J, Higgins R, Lim MD, Atkinson K, Yang J, Lin K, Borchers CH
Anal Chim Acta 2018 Dec 11;1037:177-187. Epub 2018 Feb 5 doi: 10.1016/j.aca.2018.01.045. PMID: 30292292
Nogueira C, Meschini MC, Nesti C, Garcia P, Diogo L, Valongo C, Costa R, Videira A, Vilarinho L, Santorelli FM
J Child Neurol 2015 Feb;30(2):228-32. Epub 2014 Mar 20 doi: 10.1177/0883073814527158. PMID: 24659738
Dercksen M, IJlst L, Duran M, Mienie LJ, van Cruchten A, van der Westhuizen FH, Wanders RJ
Biochim Biophys Acta 2014 Dec;1842(12 Pt A):2510-6. Epub 2013 May 2 doi: 10.1016/j.bbadis.2013.04.027. PMID: 23643712
Peng M, Liu L, Jiang M, Liang C, Zhao X, Cai Y, Sheng H, Ou Z, Luo H
J Chromatogr B Analyt Technol Biomed Life Sci 2013 Aug 1;932:12-8. Epub 2013 Jun 2 doi: 10.1016/j.jchromb.2013.05.028. PMID: 23816563

Therapy

Sasaki T, Minagawa M, Yamamoto T, Ichihashi H
Brain Dev 1991;13(1):52-5. doi: 10.1016/s0387-7604(12)80298-1. PMID: 2063999
Kimura A, Yoshida I, Ono E, Matsuishi T, Yoshino M, Yamashita F, Yamamoto M, Hashimoto T, Shinka T, Kuhara T
Brain Dev 1986;8(6):601-5. doi: 10.1016/s0387-7604(86)80006-7. PMID: 3826551
Gregersen N, Wintzensen H, Christensen SK, Christensen MF, Brandt NJ, Rasmussen K
Pediatr Res 1982 Oct;16(10):861-8. doi: 10.1203/00006450-198210000-00012. PMID: 7145508

Prognosis

Nogueira C, Meschini MC, Nesti C, Garcia P, Diogo L, Valongo C, Costa R, Videira A, Vilarinho L, Santorelli FM
J Child Neurol 2015 Feb;30(2):228-32. Epub 2014 Mar 20 doi: 10.1177/0883073814527158. PMID: 24659738
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368
Kölker S, Boy SP, Heringer J, Müller E, Maier EM, Ensenauer R, Mühlhausen C, Schlune A, Greenberg CR, Koeller DM, Hoffmann GF, Haege G, Burgard P
Mol Genet Metab 2012 Sep;107(1-2):72-80. Epub 2012 Apr 4 doi: 10.1016/j.ymgme.2012.03.021. PMID: 22520952
Morava E, Steuerwald U, Carrozzo R, Kluijtmans LA, Joensen F, Santer R, Dionisi-Vici C, Wevers RA
Mitochondrion 2009 Nov;9(6):438-42. Epub 2009 Aug 8 doi: 10.1016/j.mito.2009.08.003. PMID: 19666145
Purevsuren J, Hasegawa Y, Kobayashi H, Endo M, Yamaguchi S
Brain Dev 2008 Sep;30(8):520-6. Epub 2008 Feb 11 doi: 10.1016/j.braindev.2008.01.001. PMID: 18262742

Clinical prediction guides

Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368
Maguire S, Estabel J, Ingham N, Pearson S, Ryder E, Carragher DM, Walker N; Sanger MGP Slc25a21 Project Team, Bussell J, Chan WI, Keane TM, Adams DJ, Scudamore CL, Lelliott CJ, Ramírez-Solis R, Karp NA, Steel KP, White JK, Gerdin AK
PLoS One 2014;9(3):e91807. Epub 2014 Mar 18 doi: 10.1371/journal.pone.0091807. PMID: 24642684Free PMC Article
Violante S, Ijlst L, Ruiter J, Koster J, van Lenthe H, Duran M, de Almeida IT, Wanders RJ, Houten SM, Ventura FV
Biochim Biophys Acta 2013 Jun;1832(6):773-9. Epub 2013 Feb 24 doi: 10.1016/j.bbadis.2013.02.012. PMID: 23485643
Kölker S, Boy SP, Heringer J, Müller E, Maier EM, Ensenauer R, Mühlhausen C, Schlune A, Greenberg CR, Koeller DM, Hoffmann GF, Haege G, Burgard P
Mol Genet Metab 2012 Sep;107(1-2):72-80. Epub 2012 Apr 4 doi: 10.1016/j.ymgme.2012.03.021. PMID: 22520952
Schlottfeldt J, Blazina LR, Wannmacher CM, Wajner M
Int J Immunopharmacol 1995 Mar;17(3):175-82. doi: 10.1016/0192-0561(95)00003-k. PMID: 7558511

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...