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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
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Wiley V, Carpenter K, Wilcken B
Acta Paediatr Suppl 1999 Dec;88(432):48-51. doi: 10.1111/j.1651-2227.1999.tb01157.x. PMID: 10626578
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
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Tardif J, Pratte A, Laberge AM
Prenat Diagn 2018 Jan;38(1):67-74. Epub 2017 May 12 doi: 10.1002/pd.5055. PMID: 28419508
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
Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders.
Cross JH, Gadian DG, Connelly A, Leonard JV
J Inherit Metab Dis 1993;16(4):800-11. doi: 10.1007/BF00711912. PMID: 8412023
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

Diagnosis

Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Tardif J, Pratte A, Laberge AM
Prenat Diagn 2018 Jan;38(1):67-74. Epub 2017 May 12 doi: 10.1002/pd.5055. PMID: 28419508
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K, Steneryd K, Wiklund LM, Tulinius M, Darin N
Mitochondrion 2013 Jul;13(4):364-71. Epub 2013 Apr 24 doi: 10.1016/j.mito.2013.04.008. PMID: 23623855
Detection of inherited neurometabolic disorders. A practical clinical approach.
Chaves-Carballo E
Pediatr Clin North Am 1992 Aug;39(4):801-20. doi: 10.1016/s0031-3955(16)38376-6. PMID: 1635807
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
Chronic congenital lactic acidosis. A fatal case with hyperphosphatemia and hyperlipemia.
Schärer K, Marty A, Mühlethaler JP
Helv Paediatr Acta 1968 Apr;23(2):107-27. PMID: 5699019

Therapy

Treatment of congenital lactic acidosis with dichloroacetate.
Stacpoole PW, Barnes CL, Hurbanis MD, Cannon SL, Kerr DS
Arch Dis Child 1997 Dec;77(6):535-41. doi: 10.1136/adc.77.6.535. PMID: 9496194Free PMC Article
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.
Federico A, Dotti MT, Fabrizi GM, Palmeri S, Massimo L, Robinson BH, Malandrini A, Guazzi GC
Eur Neurol 1990;30(3):123-7. doi: 10.1159/000117327. PMID: 2162773
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
Dichloroacetate in the treatment of congenital lactic acidosis.
Aynsley-Green A, Weindling AM, Soltész G, Ross B, Jenkins PA
J Inherit Metab Dis 1984;7(1):26. doi: 10.1007/BF01805616. PMID: 6429437
Chronic congenital lactic acidosis. A fatal case with hyperphosphatemia and hyperlipemia.
Schärer K, Marty A, Mühlethaler JP
Helv Paediatr Acta 1968 Apr;23(2):107-27. PMID: 5699019

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
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 and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, García Silva MT, Hernandez EM, Lissens W, Van Coster R
Am J Med Genet A 2003 Aug 30;121A(2):126-31. doi: 10.1002/ajmg.a.20171. PMID: 12910490

Clinical prediction guides

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
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
Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders.
Cross JH, Gadian DG, Connelly A, Leonard JV
J Inherit Metab Dis 1993;16(4):800-11. doi: 10.1007/BF00711912. PMID: 8412023
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity.
Asano K, Miyamoto I, Matsushita T, Murakami Y, Minoura S, Wagatsuma T, Oshima M
Clin Chim Acta 1988 Apr 29;173(3):305-12. doi: 10.1016/0009-8981(88)90018-6. PMID: 3383430

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