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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).
See: Condition Record
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.
See: Condition Record
Mitochondrial complex III deficiency nuclear type 7
Oxoglutaricaciduria

Professional guidelines

PubMed

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
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
Congenital lactic acidosis in children--differential diagnosis in 44 cases.
Pronicka E, Gruszczyńska B, Badurska B, Fidziańska A, Moszczyńska A
Mater Med Pol 1991 Jul-Sep;23(3):215-8. PMID: 1842718
Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.
Chalmers RA
J Inherit Metab Dis 1984;7 Suppl 1:79-89. doi: 10.1007/BF03047380. PMID: 6434850

Recent clinical studies

Etiology

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
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
Sleep disorders associated with primary mitochondrial diseases.
Ramezani RJ, Stacpoole PW
J Clin Sleep Med 2014 Nov 15;10(11):1233-9. doi: 10.5664/jcsm.4212. PMID: 25325607Free PMC Article
Renal manifestations of congenital lactic acidosis.
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
Clinical approach to inherited metabolic disorders in neonates.
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
Problems in the congenital lactic acidoses.
Leonard JV
Ciba Found Symp 1982;87:340-56. doi: 10.1002/9780470720691.ch19. PMID: 6280937

Diagnosis

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
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
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ
Clin Genet 2017 Apr;91(4):634-639. Epub 2017 Jan 5 doi: 10.1111/cge.12894. PMID: 27743463
Sleep disorders associated with primary mitochondrial diseases.
Ramezani RJ, Stacpoole PW
J Clin Sleep Med 2014 Nov 15;10(11):1233-9. doi: 10.5664/jcsm.4212. PMID: 25325607Free PMC Article
Clinical approach to inherited metabolic disorders in neonates.
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
Congenital lactic acidosis.
Kuroda Y, Naito E, Takeda E, Yokota I, Miyao M
Enzyme 1987;38(1-4):108-14. doi: 10.1159/000469196. PMID: 3440441

Therapy

Model Informed Dose Optimization of Dichloroacetate for the Treatment of Congenital Lactic Acidosis in Children.
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
Long-term safety of dichloroacetate in congenital lactic acidosis.
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
Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.
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
Renal manifestations of congenital lactic acidosis.
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
Congenital lactic acidosis.
Kuroda Y, Naito E, Takeda E, Yokota I, Miyao M
Enzyme 1987;38(1-4):108-14. doi: 10.1159/000469196. PMID: 3440441

Prognosis

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
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
Model Informed Dose Optimization of Dichloroacetate for the Treatment of Congenital Lactic Acidosis in Children.
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
Sleep disorders associated with primary mitochondrial diseases.
Ramezani RJ, Stacpoole PW
J Clin Sleep Med 2014 Nov 15;10(11):1233-9. doi: 10.5664/jcsm.4212. PMID: 25325607Free PMC Article
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
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
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
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

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
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
Model Informed Dose Optimization of Dichloroacetate for the Treatment of Congenital Lactic Acidosis in Children.
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
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
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
Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
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
Human glutathione transferase zeta.
Board PG, Anders MW
Methods Enzymol 2005;401:61-77. doi: 10.1016/S0076-6879(05)01004-9. PMID: 16399379

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