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Succinate-Coa Ligase Deficiency

MedGen UID:
777977
•Concept ID:
C3711369
•
Disease or Syndrome
Synonyms: Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria; Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria; Succinate-Coenzyme A Ligase Deficiency

Professional guidelines

PubMed

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E
J Inherit Metab Dis 2016 Mar;39(2):243-52. Epub 2015 Oct 16 doi: 10.1007/s10545-015-9894-9. PMID: 26475597

Recent clinical studies

Etiology

Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B
J Coll Physicians Surg Pak 2017 Apr;27(4):218-221. PMID: 28492150
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E
J Inherit Metab Dis 2016 Mar;39(2):243-52. Epub 2015 Oct 16 doi: 10.1007/s10545-015-9894-9. PMID: 26475597

Diagnosis

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D
Mol Genet Metab 2019 Jan;126(1):43-52. Epub 2018 Nov 16 doi: 10.1016/j.ymgme.2018.11.009. PMID: 30470562
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Majid H, Jafri L, Khan AH, Ali ZZ, Jamil A, Yusufzai N, Fatimah M, Afroze B
J Pak Med Assoc 2018 Apr;68(4):510-514. PMID: 29808036
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B
J Coll Physicians Surg Pak 2017 Apr;27(4):218-221. PMID: 28492150
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E
J Inherit Metab Dis 2016 Mar;39(2):243-52. Epub 2015 Oct 16 doi: 10.1007/s10545-015-9894-9. PMID: 26475597
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y
Brain Dev 2016 Jan;38(1):61-7. Epub 2015 May 28 doi: 10.1016/j.braindev.2015.05.002. PMID: 26028457

Prognosis

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D
Mol Genet Metab 2019 Jan;126(1):43-52. Epub 2018 Nov 16 doi: 10.1016/j.ymgme.2018.11.009. PMID: 30470562
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V
J Med Genet 2010 Oct;47(10):670-6. Epub 2010 Aug 7 doi: 10.1136/jmg.2009.073445. PMID: 20693550

Clinical prediction guides

Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B
J Coll Physicians Surg Pak 2017 Apr;27(4):218-221. PMID: 28492150
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y
Brain Dev 2016 Jan;38(1):61-7. Epub 2015 May 28 doi: 10.1016/j.braindev.2015.05.002. PMID: 26028457

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