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Classic organic aciduria

MedGen UID:
1842457
Concept ID:
C5681291
Disease or Syndrome
Synonym: classic organic aciduria
 
Monarch Initiative: MONDO:0019215
Orphanet: ORPHA79163

Professional guidelines

PubMed

Knerr I, Weinhold N, Vockley J, Gibson KM
J Inherit Metab Dis 2012 Jan;35(1):29-40. Epub 2011 Feb 3 doi: 10.1007/s10545-010-9269-1. PMID: 21290185Free PMC Article
Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. PMID: 16763906
Hörster F, Hoffmann GF
Pediatr Nephrol 2004 Oct;19(10):1071-4. Epub 2004 Aug 4 doi: 10.1007/s00467-004-1572-3. PMID: 15293040

Recent clinical studies

Etiology

Ribas GS, Lopes FF, Deon M, Vargas CR
Cell Mol Neurobiol 2022 Nov;42(8):2593-2610. Epub 2021 Oct 19 doi: 10.1007/s10571-021-01156-6. PMID: 34665389
Barends M, Pitt J, Morrissy S, Tzanakos N, Boneh A; Newborn Screening Laboratory Staff
Mol Genet Metab 2014 Sep-Oct;113(1-2):46-52. Epub 2014 Jul 11 doi: 10.1016/j.ymgme.2014.07.003. PMID: 25047749
Kölker S, Burgard P, Sauer SW, Okun JG
J Inherit Metab Dis 2013 Jul;36(4):635-44. Epub 2013 Mar 20 doi: 10.1007/s10545-013-9600-8. PMID: 23512157
Knerr I, Weinhold N, Vockley J, Gibson KM
J Inherit Metab Dis 2012 Jan;35(1):29-40. Epub 2011 Feb 3 doi: 10.1007/s10545-010-9269-1. PMID: 21290185Free PMC Article
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D
Eur J Pediatr 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. PMID: 7957396

Diagnosis

Ribas GS, Lopes FF, Deon M, Vargas CR
Cell Mol Neurobiol 2022 Nov;42(8):2593-2610. Epub 2021 Oct 19 doi: 10.1007/s10571-021-01156-6. PMID: 34665389
Wajner M
Nat Rev Neurol 2019 May;15(5):253-271. doi: 10.1038/s41582-019-0161-9. PMID: 30914790
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
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article
Barić I
J Inherit Metab Dis 2008 Jun;31(3):293-4. doi: 10.1007/s10545-008-9977-y. PMID: 18563631

Therapy

Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A
Orphanet J Rare Dis 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. PMID: 27030250Free PMC Article
Badve MS, Bhuta S, Mcgill J
N Z Med J 2015 Feb 20;128(1409):61-4. PMID: 25721963
Chuang DT, Chuang JL, Wynn RM
J Nutr 2006 Jan;136(1 Suppl):243S-9S. doi: 10.1093/jn/136.1.243S. PMID: 16365091
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385
Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S
J Inherit Metab Dis 1990;13(1):76-92. doi: 10.1007/BF01799335. PMID: 2109151

Prognosis

Wajner M
Nat Rev Neurol 2019 May;15(5):253-271. doi: 10.1038/s41582-019-0161-9. PMID: 30914790
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
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article
Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. PMID: 16763906
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D
Eur J Pediatr 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. PMID: 7957396

Clinical prediction guides

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A
J Inherit Metab Dis 2015 Nov;38(6):1059-74. Epub 2015 Apr 15 doi: 10.1007/s10545-015-9840-x. PMID: 25875216
Barends M, Pitt J, Morrissy S, Tzanakos N, Boneh A; Newborn Screening Laboratory Staff
Mol Genet Metab 2014 Sep-Oct;113(1-2):46-52. Epub 2014 Jul 11 doi: 10.1016/j.ymgme.2014.07.003. PMID: 25047749
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article
Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. PMID: 16763906
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385

Recent systematic reviews

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH
Health Technol Assess 1997;1(11):i-iv, 1-95. PMID: 9483156

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