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Organic aciduria

MedGen UID:
66037
Concept ID:
C0241775
Finding; Finding
Synonyms: Inborn organic aciduria; Inherited organic acidemia
 
HPO: HP:0001992
Monarch Initiative: MONDO:0000688

Definition

Excretion of non-amino organic acids in urine. [from HPO]

Conditions with this feature

Professional guidelines

PubMed

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):129-135. doi: 10.3724/zdxbyxb-2022-0164. PMID: 35576117Free PMC Article
Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article

Recent clinical studies

Etiology

Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P
Mol Genet Metab 2024 Mar;141(3):108123. Epub 2024 Jan 1 doi: 10.1016/j.ymgme.2023.108123. PMID: 38219674
Abou Haidar L, Harris RC, Pachnis P, Chen H, Gotway GK, Ni M, DeBerardinis RJ
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006295. PMID: 37709555Free PMC Article
Forny P, Hörster F, Baumgartner MR, Kölker S, Boy N
J Inherit Metab Dis 2023 May;46(3):520-535. Epub 2023 Jan 16 doi: 10.1002/jimd.12586. PMID: 36591944
Dimitrov B, Molema F, Williams M, Schmiesing J, Mühlhausen C, Baumgartner MR, Schumann A, Kölker S
J Inherit Metab Dis 2021 Jan;44(1):9-21. Epub 2020 May 27 doi: 10.1002/jimd.12254. PMID: 32412122
Borum PR, Bennett SG
J Am Coll Nutr 1986;5(2):177-82. doi: 10.1080/07315724.1986.10720124. PMID: 3088084

Diagnosis

Forny P, Hörster F, Baumgartner MR, Kölker S, Boy N
J Inherit Metab Dis 2023 May;46(3):520-535. Epub 2023 Jan 16 doi: 10.1002/jimd.12586. PMID: 36591944
Dimitrov B, Molema F, Williams M, Schmiesing J, Mühlhausen C, Baumgartner MR, Schumann A, Kölker S
J Inherit Metab Dis 2021 Jan;44(1):9-21. Epub 2020 May 27 doi: 10.1002/jimd.12254. PMID: 32412122
Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M
Clin Exp Med 2017 Aug;17(3):305-323. Epub 2016 Sep 9 doi: 10.1007/s10238-016-0435-0. PMID: 27613073
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Barić I
J Inherit Metab Dis 2008 Jun;31(3):293-4. doi: 10.1007/s10545-008-9977-y. PMID: 18563631

Therapy

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):129-135. doi: 10.3724/zdxbyxb-2022-0164. PMID: 35576117Free PMC Article
Ruzkova K, Weingarten TN, Larson KJ, Friedhoff RJ, Gavrilov DK, Sprung J
Paediatr Anaesth 2015 Aug;25(8):807-817. Epub 2015 May 5 doi: 10.1111/pan.12673. PMID: 25943188
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Chuang DT, Chuang JL, Wynn RM
J Nutr 2006 Jan;136(1 Suppl):243S-9S. doi: 10.1093/jn/136.1.243S. PMID: 16365091
Borum PR, Bennett SG
J Am Coll Nutr 1986;5(2):177-82. doi: 10.1080/07315724.1986.10720124. PMID: 3088084

Prognosis

Forny P, Hörster F, Baumgartner MR, Kölker S, Boy N
J Inherit Metab Dis 2023 May;46(3):520-535. Epub 2023 Jan 16 doi: 10.1002/jimd.12586. PMID: 36591944
Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M
Clin Exp Med 2017 Aug;17(3):305-323. Epub 2016 Sep 9 doi: 10.1007/s10238-016-0435-0. PMID: 27613073
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Baumgartner ER, Suormala T
Int J Vitam Nutr Res 1997;67(5):377-84. PMID: 9350481

Clinical prediction guides

Isasi E, Wajner M, Duarte JA, Olivera-Bravo S
Neurotox Res 2024 Jul 4;42(4):33. doi: 10.1007/s12640-024-00710-6. PMID: 38963434
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW
Int J Mol Sci 2023 Aug 24;24(17) doi: 10.3390/ijms241713158. PMID: 37685964Free PMC Article
Köpfer F, Garbade SF, Klingbeil K, Schmidt-Mader B, Westhoff JH, Okun JG, Zorn M, Hoffmann GF, Peters V, Morath M
J Inherit Metab Dis 2023 Nov;46(6):1078-1088. Epub 2023 Aug 29 doi: 10.1002/jimd.12672. PMID: 37603032
Forny P, Hörster F, Baumgartner MR, Kölker S, Boy N
J Inherit Metab Dis 2023 May;46(3):520-535. Epub 2023 Jan 16 doi: 10.1002/jimd.12586. PMID: 36591944
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article

Recent systematic reviews

Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D
Eur J Paediatr Neurol 2020 Sep;28:151-158. Epub 2020 Jul 29 doi: 10.1016/j.ejpn.2020.07.007. PMID: 32800686

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