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Exercise intolerance with lactic acidosis

MedGen UID:
1842676
•Concept ID:
C5680714
•
Pathologic Function
Orphanet: ORPHA254843

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExercise intolerance with lactic acidosis

Recent clinical studies

Etiology

Cardiac diastolic maladaptation is associated with the severity of exercise intolerance in sickle cell anemia patients.
d'Humières T, Bouvarel A, Boyer L, Savale L, Guillet H, Alassaad L, de Luna G, Berti E, Iles S, Pham Hung d'Alexandry d'Orengiani AL, Audureau E, Troupe MJ, Schlatter RC, Lamadieu A, Galactéros F, Derumeaux G, Messonnier LA, Bartolucci P
Sci Rep 2024 May 15;14(1):11095. doi: 10.1038/s41598-024-61689-w. PMID: 38750085Free PMC Article
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
de Laat P, Rodenburg RR, Roeleveld N, Koene S, Smeitink JA, Janssen MC
J Med Genet 2021 Jan;58(1):48-55. Epub 2020 May 21 doi: 10.1136/jmedgenet-2019-106800. PMID: 32439810
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S
Orphanet J Rare Dis 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. PMID: 30025539Free PMC Article
Skeletal muscle involvement in cardiomyopathies.
Limongelli G, D'Alessandro R, Maddaloni V, Rea A, Sarkozy A, McKenna WJ
J Cardiovasc Med (Hagerstown) 2013 Dec;14(12):837-61. doi: 10.2459/JCM.0b013e3283641c69. PMID: 24149064
Metabolic and hemodynamic responses of lower limb during exercise in patients with COPD.
Maltais F, Jobin J, Sullivan MJ, Bernard S, Whittom F, Killian KJ, Desmeules M, Bélanger M, LeBlanc P
J Appl Physiol (1985) 1998 May;84(5):1573-80. doi: 10.1152/jappl.1998.84.5.1573. PMID: 9572801

Diagnosis

COXPD9 in an individual from Puerto Rico and literature review.
Alsharhan H, Muraresku C, Ganetzky RD
Am J Med Genet A 2021 Aug;185(8):2519-2525. Epub 2021 May 19 doi: 10.1002/ajmg.a.62344. PMID: 34008913
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Catteruccia M, Sauchelli D, Della Marca G, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S
J Neurol 2015 Mar;262(3):701-10. Epub 2015 Jan 6 doi: 10.1007/s00415-014-7632-0. PMID: 25559684
Skeletal muscle involvement in cardiomyopathies.
Limongelli G, D'Alessandro R, Maddaloni V, Rea A, Sarkozy A, McKenna WJ
J Cardiovasc Med (Hagerstown) 2013 Dec;14(12):837-61. doi: 10.2459/JCM.0b013e3283641c69. PMID: 24149064
Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

Therapy

Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?
Gueguen N, Piarroux J, Sarzi E, Benkirane M, Manes G, Delettre C, Amedro P, Leboucq N, Koenig M, Meyer P, Meunier I, Reynier P, Lenaers G, Roubertie A
Mitochondrion 2021 Jul;59:169-174. Epub 2021 May 20 doi: 10.1016/j.mito.2021.05.002. PMID: 34023438
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S
Orphanet J Rare Dis 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. PMID: 30025539Free PMC Article
Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis.
Sanaker PS, Toompuu M, McClorey G, Bindoff LA
Gene 2012 Feb 25;494(2):231-6. Epub 2011 Dec 1 doi: 10.1016/j.gene.2011.11.021. PMID: 22155317
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ
Brain 2011 Jan;134(Pt 1):210-9. Epub 2010 Oct 7 doi: 10.1093/brain/awq273. PMID: 20929961
Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis.
Vissing J, Gansted U, Quistorff B
Ann Neurol 2001 May;49(5):672-6. PMID: 11357960

Prognosis

Cardiac diastolic maladaptation is associated with the severity of exercise intolerance in sickle cell anemia patients.
d'Humières T, Bouvarel A, Boyer L, Savale L, Guillet H, Alassaad L, de Luna G, Berti E, Iles S, Pham Hung d'Alexandry d'Orengiani AL, Audureau E, Troupe MJ, Schlatter RC, Lamadieu A, Galactéros F, Derumeaux G, Messonnier LA, Bartolucci P
Sci Rep 2024 May 15;14(1):11095. doi: 10.1038/s41598-024-61689-w. PMID: 38750085Free PMC Article
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I
Mol Genet Metab 2023 Nov;140(3):107675. Epub 2023 Aug 4 doi: 10.1016/j.ymgme.2023.107675. PMID: 37572574
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S
Orphanet J Rare Dis 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. PMID: 30025539Free PMC Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Catteruccia M, Sauchelli D, Della Marca G, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S
J Neurol 2015 Mar;262(3):701-10. Epub 2015 Jan 6 doi: 10.1007/s00415-014-7632-0. PMID: 25559684

Clinical prediction guides

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I
Mol Genet Metab 2023 Nov;140(3):107675. Epub 2023 Aug 4 doi: 10.1016/j.ymgme.2023.107675. PMID: 37572574
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
de Laat P, Rodenburg RR, Roeleveld N, Koene S, Smeitink JA, Janssen MC
J Med Genet 2021 Jan;58(1):48-55. Epub 2020 May 21 doi: 10.1136/jmedgenet-2019-106800. PMID: 32439810
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S
Orphanet J Rare Dis 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. PMID: 30025539Free PMC Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Catteruccia M, Sauchelli D, Della Marca G, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S
J Neurol 2015 Mar;262(3):701-10. Epub 2015 Jan 6 doi: 10.1007/s00415-014-7632-0. PMID: 25559684

Recent systematic reviews

Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

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