Triosephosphate isomerase deficiency in a Tunisian case series

Cover Page

Cite item

Full Text

Abstract

   Triosephosphate isomerase deficiency (TPID) is the most severe glycolytic enzyme defect associated with a progressive neurologic dysfunction. It typically causes hemolytic anemia, neurodegeneration, and recurrent bacterial infections. TPID is caused by a homozygous or a compound heterozygous mutation in the TPID gene. The most frequent variant is Glu104Asp. We report a case series from three unrelated Tunisian families affected by TPID caused by a homozygous Glu104Asp mutation. These reported cases had severe hemolytic anemia. Informed consent was obtained from patients’ parents.

About the authors

Amal Elleuch

Hedi Chaker Hospital

Author for correspondence.
Email: amalelleuch@gmail.com
ORCID iD: 0000-0002-0897-8930

Elleuch Amal, MD

Department of Pediatric Emergency and Reanimation

30219; El Ain; Sfax

Tunisia

Bouzid Sirine

University Hospital Habib Bourguiba, University of Sfax

Email: sirine_bouzid@medecinesfax.org

Bouzid Sirine

Sfax

Tunisia

Boujelben Imen

University Hospital Hedi Chaker, University of Sfax

Email: imeneboujelbene@gmail.com
ORCID iD: 0000-0002-3908-9300

Boujelben Imen

Genetic department

Sfax

Tunisia

Maalej Bayen

Hedi Chaker Hospital

Email: mm_bayen@yahoo.fr

Maalej Bayen

Pediatric department

Sfax

Tunisia

Taieb Messaoudi

Béchir-Hamza Children's Hospital

Email: msst99@rns.tn

Taieb Messaoudi

Biochemistry department

Tunis

Tunisia

Kammoun Hassen

University Hospital Hedi Chaker, University of Sfax

Email: email.hassen.kamoun@gmail.com

Kammoun Hassen

Genetic department

Sfax

Tunisia

Safi Faiza

Hedi Chaker Hospital

ORCID iD: 0000-0002-7110-016X

Safi Faiza

Sfax

Tunisia

References

  1. Harris C., Nelson B., Farber D., Bickel S., Huxol H., Asamoah A., Morton R. Child Neurology: Triosephosphate isomerase deficiency. Neurology 2020; 95 (24): e3448–51. doi: 10.1212/WNL.0000000000010745
  2. Orosz F., Oláh J., Ovádi J.. Triosephosphate isomerase deficiency: New insights into an enigmatic disease. Biochim Biophys Acta 2009; 1792: 1168–74. doi: 10.1016/j.bbadis.2009.09.012
  3. Rosa R., Prehu M.-O., Calvin M.-C., Badoual J., Alix D., Girod R. Hereditary triose phosphate isomerase deficiency: seven new homozygous cases. Hum Genet 1985; 71: 235-40. doi: 10.1007/BF00284582
  4. Oláh J., Orosz F., Puskás L.G., Hackler L., Horányi M., Polgár L., et al. Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels. Biochem J 2005; 392: 675–83. doi: 10.1042/BJ20050993
  5. Aissa K., Kamoun F., Sfaihi L., Ghedira E.S., Aloulou H., Kamoun T., et al. Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency. Fetal Pediatr Pathol 2014; 33: 234–8.
  6. Valentin C., Pissard S., Martin J., Heron D., Labrune P., Livet M.O., et al. Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris). Blood 2000; 96: 1130–5. URL: https://www.semanticscholar.org/paper/Triose-phosphate-isomerase-deficiency-in-3-French-a-Valentin-Pissard/ea3ad58a8234da943355fba0076b926ab95c755c
  7. Arya R., Lalloz M.R.A., Bellingham A.J., Layton D.M. Evidence for founder effect of the glu104-to-asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Hum Mutat 1997; 10: 290–4.
  8. Schneider A.S., Valentine W.N., Hattori M., Heins H.L. Hereditary hemolytic anemia with triose phosphate isomerase deficiency. N Engl J Med 1965; 272: 229–35. doi: 10.1056/NEJM196502042720503
  9. Hollan S., Fujii H., Hirono A., Hirono K., Karro H., Miwa S., et аl. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. Hum Genet 1993; 92: 486–90. doi: 10.1007/bf00216456
  10. Conway A.J., Brown F.C., Hortle E.J., Burgio G., Foote S.J., Morton C.J., et аl. Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency. Dis Model Mech 2018; 11: dmm034678. doi: 10.1242/dmm.034678
  11. Daar I.O., Artymiuk P.J., Phillips D.C., Maquat L.E. Human triosephosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. Proc Natl Acad Sci 1986; 83 (20): 7903–7. doi: 10.1073/pnas.83.20.7903
  12. Ralser M., Heeren G., Breitenbach M., Lehrach H., Krobitsch S. Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes. PLoS One 2006; 1: e30. doi: 10.1371/journal.pone.0000030
  13. Serdaroglu G., Aydinok Y., Yilmaz S., Manco L., Özer E. Triosephosphate Isomerase Deficiency: A Patient with Val231Met Mutation. Pediatr Neurol 2011; 44: 139–42. doi: 10.1016/j.pediatrneurol.2010.08.016
  14. Romero J.M. Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure. Arch Biochem Biophys 2020; 689: 108473. doi: 10.1016/j.abb.2020.108473
  15. Roland B.P., Amrich C.G., Kammerer C.J., Stuchul K.A., Larsen S.B., Rode S., et al. Triosephosphate isomerase I170V alters catalytic site, enhances stability and induces pathology in a Drosophila model of TPI deficiency. Biochim Biophys Acta BBA 2015; 1852: 61–9. doi: 10.1016/j.bbadis.2014.10.010
  16. Segal J., Mülleder M., Krüger A., Adler T., Scholze-Wittler M., Becker L., et al. Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency. J Inherit Metab Dis 2019; 42: 839–49. doi: 10.1002/jimd.12105
  17. Roland B.P., Richards K.R., Hrizo S.L., Eicher S., Barile Z.J., Chang T.-C., et al. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo. Biochim Biophys Acta Mol Basis Dis 2019; 1865: 2257–66. doi: 10.1016/j.bbadis.2019.05.002
  18. Roland B.P., Zeccola A.M., Larsen S.B., Amrich C.G., Talsma A.D., Stuchul K.A., et al. Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics. Pallanck LJ. PLoS Genet 2016; 12: e1005941. doi: 10.1371/journal.pgen.1005941

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2024 Elleuch A., Sirine B., Imen B., Bayen M., Messaoudi T., Hassen K., Faiza S.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.