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Congenital lactic acidosis

MedGen UID:
870818
Concept ID:
C4025276
Disease or Syndrome
Synonym: Lactic acidosis, congenital
 
HPO: HP:0004902

Definition

A form of lactic acidemia with congenital onset. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital lactic acidosis

Conditions with this feature

Oxoglutaricaciduria
MedGen UID:
414553
Concept ID:
C2752074
Disease or Syndrome
Oxoglutarate dehydrogenase deficiency (OGDHD) is an autosomal recessive disorder associated with features of infantile- and pediatric-onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures (summary by Yap et al., 2021).
Mitochondrial complex III deficiency nuclear type 7
MedGen UID:
862845
Concept ID:
C4014408
Disease or Syndrome
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.

Professional guidelines

PubMed

Debray FG, Mitchell GA, Allard P, Robinson BH, Hanley JA, Lambert M
Clin Chem 2007 May;53(5):916-21. Epub 2007 Mar 23 doi: 10.1373/clinchem.2006.081166. PMID: 17384007
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Pronicka E, Gruszczyńska B, Badurska B, Fidziańska A, Moszczyńska A
Mater Med Pol 1991 Jul-Sep;23(3):215-8. PMID: 1842718

Recent clinical studies

Etiology

Magdy RM, Abd-Elkhalek HS, Bakheet MA, Mohamed MM
Arch Pediatr 2022 Jan;29(1):36-43. Epub 2021 Nov 27 doi: 10.1016/j.arcped.2021.11.002. PMID: 34848132
Ramezani RJ, Stacpoole PW
J Clin Sleep Med 2014 Nov 15;10(11):1233-9. doi: 10.5664/jcsm.4212. PMID: 25325607Free PMC Article
Neiberger RE, George JC, Perkins LA, Theriaque DW, Hutson AD, Stacpoole PW
Am J Kidney Dis 2002 Jan;39(1):12-23. doi: 10.1053/ajkd.2002.29872. PMID: 11774096
Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A
Biol Neonate 1990;58 Suppl 1:44-53. doi: 10.1159/000243299. PMID: 2265219
Leonard JV
Ciba Found Symp 1982;87:340-56. doi: 10.1002/9780470720691.ch19. PMID: 6280937

Diagnosis

Magdy RM, Abd-Elkhalek HS, Bakheet MA, Mohamed MM
Arch Pediatr 2022 Jan;29(1):36-43. Epub 2021 Nov 27 doi: 10.1016/j.arcped.2021.11.002. PMID: 34848132
Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R
Cold Spring Harb Mol Case Stud 2021 Jun;7(3) Epub 2021 Jun 11 doi: 10.1101/mcs.a006081. PMID: 34117073Free PMC Article
Ramezani RJ, Stacpoole PW
J Clin Sleep Med 2014 Nov 15;10(11):1233-9. doi: 10.5664/jcsm.4212. PMID: 25325607Free PMC Article
Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A
Biol Neonate 1990;58 Suppl 1:44-53. doi: 10.1159/000243299. PMID: 2265219
Kuroda Y, Naito E, Takeda E, Yokota I, Miyao M
Enzyme 1987;38(1-4):108-14. doi: 10.1159/000469196. PMID: 3440441

Therapy

Mangal N, James MO, Stacpoole PW, Schmidt S
J Clin Pharmacol 2018 Feb;58(2):212-220. Epub 2017 Sep 15 doi: 10.1002/jcph.1009. PMID: 28914978Free PMC Article
Abdelmalak M, Lew A, Ramezani R, Shroads AL, Coats BS, Langaee T, Shankar MN, Neiberger RE, Subramony SH, Stacpoole PW
Mol Genet Metab 2013 Jun;109(2):139-43. Epub 2013 Apr 6 doi: 10.1016/j.ymgme.2013.03.019. PMID: 23611579Free PMC Article
Toyoshima M, Oka A, Egi Y, Yamamoto T, Onozuka M, Nosaka K, Naito E, Yamada K
Pediatr Neurol 2005 Aug;33(2):98-104. doi: 10.1016/j.pediatrneurol.2005.02.007. PMID: 16087053
Neiberger RE, George JC, Perkins LA, Theriaque DW, Hutson AD, Stacpoole PW
Am J Kidney Dis 2002 Jan;39(1):12-23. doi: 10.1053/ajkd.2002.29872. PMID: 11774096
Kuroda Y, Naito E, Takeda E, Yokota I, Miyao M
Enzyme 1987;38(1-4):108-14. doi: 10.1159/000469196. PMID: 3440441

Prognosis

Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN
Hum Mol Genet 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080. PMID: 29518248Free PMC Article
Mangal N, James MO, Stacpoole PW, Schmidt S
J Clin Pharmacol 2018 Feb;58(2):212-220. Epub 2017 Sep 15 doi: 10.1002/jcph.1009. PMID: 28914978Free PMC Article
Ramezani RJ, Stacpoole PW
J Clin Sleep Med 2014 Nov 15;10(11):1233-9. doi: 10.5664/jcsm.4212. PMID: 25325607Free PMC Article
Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L
Mol Genet Metab 2014 Sep-Oct;113(1-2):76-83. Epub 2014 Jul 21 doi: 10.1016/j.ymgme.2014.07.017. PMID: 25087164
Sharma R, Sharrard MJ, Connolly DJ, Mordekar SR
Dev Med Child Neurol 2012 May;54(5):469-71. Epub 2011 Sep 6 doi: 10.1111/j.1469-8749.2011.04108.x. PMID: 21895644

Clinical prediction guides

Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN
Hum Mol Genet 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080. PMID: 29518248Free PMC Article
Mangal N, James MO, Stacpoole PW, Schmidt S
J Clin Pharmacol 2018 Feb;58(2):212-220. Epub 2017 Sep 15 doi: 10.1002/jcph.1009. PMID: 28914978Free PMC Article
Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA
J Med Genet 2011 Mar;48(3):183-9. Epub 2011 Jan 25 doi: 10.1136/jmg.2010.081976. PMID: 21266382
Stacpoole PW, Kerr DS, Barnes C, Bunch ST, Carney PR, Fennell EM, Felitsyn NM, Gilmore RL, Greer M, Henderson GN, Hutson AD, Neiberger RE, O'Brien RG, Perkins LA, Quisling RG, Shroads AL, Shuster JJ, Silverstein JH, Theriaque DW, Valenstein E
Pediatrics 2006 May;117(5):1519-31. doi: 10.1542/peds.2005-1226. PMID: 16651305
Board PG, Anders MW
Methods Enzymol 2005;401:61-77. doi: 10.1016/S0076-6879(05)01004-9. PMID: 16399379

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