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Hemolytic anemia due to a disorder of glycolytic enzymes

MedGen UID:
1843086
•Concept ID:
C5681713
•
Disease or Syndrome
Orphanet: ORPHA98372

Professional guidelines

PubMed

Etavopivat, a Pyruvate Kinase Activator in Red Blood Cells, for the Treatment of Sickle Cell Disease.
Schroeder P, Fulzele K, Forsyth S, Ribadeneira MD, Guichard S, Wilker E, Marshall CG, Drake A, Fessler R, Konstantinidis DG, Seu KG, Kalfa TA
J Pharmacol Exp Ther 2022 Mar;380(3):210-219. Epub 2022 Jan 14 doi: 10.1124/jpet.121.000743. PMID: 35031585
Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739

Recent clinical studies

Etiology

Nmnat3 deficiency in hemolytic anemia exacerbates malaria infection.
Mahmood A, Yaku K, Hikosaka K, Gulshan M, Inoue SI, Kobayashi F, Nakagawa T
Biochem Biophys Res Commun 2022 Dec 31;637:58-65. Epub 2022 Nov 5 doi: 10.1016/j.bbrc.2022.11.003. PMID: 36375251
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics.
Roland BP, Zeccola AM, Larsen SB, Amrich CG, Talsma AD, Stuchul KA, Heroux A, Levitan ES, VanDemark AP, Palladino MJ
PLoS Genet 2016 Mar;12(3):e1005941. Epub 2016 Mar 31 doi: 10.1371/journal.pgen.1005941. PMID: 27031109Free PMC Article
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.
Aasly J, van Diggelen OP, Boer AM, Brønstad G
Eur J Neurol 2000 Jan;7(1):111-3. doi: 10.1046/j.1468-1331.2000.00012.x. PMID: 10809925
The effects of cyanate in vitro on red blood cell metabolism and function in sickle cell anemia.
De Furia FG, Miller DR, Cerami A, Manning JM
J Clin Invest 1972 Mar;51(3):566-74. doi: 10.1172/JCI106845. PMID: 5011101Free PMC Article

Diagnosis

Mitapivat: A Quinolone Sulfonamide to Manage Hemolytic Anemia in Adults With Pyruvate Kinase Deficiency.
Wills J, Horenstein M, Kim A, Silva MA, Dima L
Am J Ther 2023 Sep-Oct 01;30(5):e433-e438. doi: 10.1097/MJT.0000000000001663. PMID: 37713687
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P, Fermo E
Haematologica 2020 Sep 1;105(9):2218-2228. doi: 10.3324/haematol.2019.241141. [Epub ahead of print] PMID: 33054047Free PMC Article
Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
How we manage patients with pyruvate kinase deficiency.
Grace RF, Mark Layton D, Barcellini W
Br J Haematol 2019 Mar;184(5):721-734. Epub 2019 Jan 25 doi: 10.1111/bjh.15758. PMID: 30681718
Red Blood Cell Enzyme Disorders.
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284

Therapy

Functional and multi-omics signatures of mitapivat efficacy upon activation of pyruvate kinase in red blood cells from patients with sickle cell disease.
D'Alessandro A, Le K, Lundt M, Li Q, Dunkelberger EB, Cellmer T, Worth AJ, Patil S, Huston C, Grier A, Dzieciatkowska M, Stephenson D, Eaton WA, Thein SL
Haematologica 2024 Aug 1;109(8):2639-2652. doi: 10.3324/haematol.2023.284831. PMID: 38450513Free PMC Article
Pyruvate kinase activators: targeting red cell metabolism in sickle cell disease.
Xu JZ, Vercellotti GM
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):107-113. doi: 10.1182/hematology.2023000467. PMID: 38066891Free PMC Article
Mitapivat: A Quinolone Sulfonamide to Manage Hemolytic Anemia in Adults With Pyruvate Kinase Deficiency.
Wills J, Horenstein M, Kim A, Silva MA, Dima L
Am J Ther 2023 Sep-Oct 01;30(5):e433-e438. doi: 10.1097/MJT.0000000000001663. PMID: 37713687
Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Red Blood Cell Enzyme Disorders.
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284

Prognosis

Functional and multi-omics signatures of mitapivat efficacy upon activation of pyruvate kinase in red blood cells from patients with sickle cell disease.
D'Alessandro A, Le K, Lundt M, Li Q, Dunkelberger EB, Cellmer T, Worth AJ, Patil S, Huston C, Grier A, Dzieciatkowska M, Stephenson D, Eaton WA, Thein SL
Haematologica 2024 Aug 1;109(8):2639-2652. doi: 10.3324/haematol.2023.284831. PMID: 38450513Free PMC Article
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Dongerdiye R, Jagadeesh S, Suresh B, Rajendran A, Devendra R, Warang P, Kedar PS
J Clin Pathol 2021 Oct;74(10):620-624. Epub 2020 Dec 25 doi: 10.1136/jclinpath-2020-206960. PMID: 33361148
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.
Oliver C, Timson DJ
Eur J Med Genet 2017 Jun;60(6):289-298. Epub 2017 Mar 21 doi: 10.1016/j.ejmg.2017.03.008. PMID: 28341520
Triosephosphate isomerase deficiency: predictions and facts.
Orosz F, Vértessy BG, Hollán S, Horányi M, Ovádi J
J Theor Biol 1996 Oct 7;182(3):437-47. doi: 10.1006/jtbi.1996.0184. PMID: 8944178

Clinical prediction guides

Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Dongerdiye R, Jagadeesh S, Suresh B, Rajendran A, Devendra R, Warang P, Kedar PS
J Clin Pathol 2021 Oct;74(10):620-624. Epub 2020 Dec 25 doi: 10.1136/jclinpath-2020-206960. PMID: 33361148
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.
Segal J, Mülleder M, Krüger A, Adler T, Scholze-Wittler M, Becker L, Calzada-Wack J, Garrett L, Hölter SM, Rathkolb B, Rozman J, Racz I, Fischer R, Busch DH, Neff F, Klingenspor M, Klopstock T, Grüning NM, Michel S, Lukaszewska-McGreal B, Voigt I, Hartmann L, Timmermann B, Lehrach H, Wolf E, Wurst W, Gailus-Durner V, Fuchs H, H de Angelis M, Schrewe H, Yuneva M, Ralser M
J Inherit Metab Dis 2019 Sep;42(5):839-849. Epub 2019 Jun 11 doi: 10.1002/jimd.12105. PMID: 31111503Free PMC Article
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.
Oliver C, Timson DJ
Eur J Med Genet 2017 Jun;60(6):289-298. Epub 2017 Mar 21 doi: 10.1016/j.ejmg.2017.03.008. PMID: 28341520
Triosephosphate isomerase deficiency: facts and doubts.
Orosz F, Oláh J, Ovádi J
IUBMB Life 2006 Dec;58(12):703-15. doi: 10.1080/15216540601115960. PMID: 17424909

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