Acta Scientific Paediatrics (ISSN: 2581-883X)

Research Article Volume 4 Issue 1

Haematological Manifestations of Inborn Errors of Metabolism

Melis Kose1* and Yeşim Oymak2

1Izmir Katip Çelebi University Medical Faculty, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey
2University of Health Sciences, Behçet Uz Children Training and Research Hospital, Department of Pediatrics, Division of Hematology, Izmir, Turkey

*Corresponding Author: Melis Kose, Izmir Katip Çelebi University Medical Faculty, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey.

Received: November 13, 2020; Published: December 10, 2020

×

Abstract

Introduction: Multisystemic involvement of inborn errors of metabolism (IEMs) makes treatment and follow-up of these diseases difficult. Haematological manifestations are significantly important for both treatment and follow-up processes of IEMs. This study evaluated haematological manifestations that may coexist with IEM disorders and affect the diagnosis process to raise awareness of IEMs coexisting with haematological findings.

Materials and Methods: In this study, medical records of 132 patients diagnosed with IEM were examined retrospectively, and the data of 43 patients with haematological findings at the time of diagnosis were evaluated. The information assessed included demographic findings, diagnosis, age at diagnosis, follow-up period, haematological manifestation, and coexisting findings.

Results: An evaluation of the haematological abnormalities at the time of diagnosis showed that of the 43 patients 15 (33.3%) had neutropenia, 3 (7.1%) had pancytopenia, 15 (34.3%) had iron deficiency anaemia (IDA), 15 (35.7%) had thrombocytopenia, 7 (16.6%) had coagulation abnormalities, 1 (2.3%) had hemolytic anaemia, 1 (2.3%) had hemophagocytic lymphohistiocytosis (HLH), and 7 (16.6%) had coagulation abnormalities. Overall, 15 (35.7%) patients had chronic anaemia.

Conclusion: The results show that hematologic abnormalities are very common features of IEM. The findings are valuable for raising awareness of hematologic manifestations in these disorders.

Keywords: Inborn Errors of Metabolism; Anemia; Neutropenia

×

References

  1. Morava E., et al. “Quo vadis: the re-definition of “inborn metabolic diseases”. Journal of Inherited Metabolic Disease 6 (2015): 1003-1006.
  2. Evangeliou A., et al. “Hematological abnormalities in inborn errors of metabolism--how frequent are they? The Cretan experience”. Pediatric Hematology and Oncology8 (2002): 581-585.
  3. Yıldız Y., et al. “Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe”. American Journal of Medical Genetics Part A 4 (2020): 705-712.
  4. Koc I. “Prevalence and sociodemographic correlates of consanguineous marriages in Turkey”. Journal of Biosocial Science 1 (2008): 137-148.
  5. Tavil B., et al. “Haematological findings in children with inborn errors of metabolism”. Journal of Inherited Metabolic Disease5 (2006): 607-611.
  6. Sal E., et al. “Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected”. ournal of Pediatric Hematology/Oncology 5 (2018): 355-359.
  7. Inoue S., et al. “Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia”. Pediatric Research2 (1981): 95-98.
  8. Chandler RJ., et al. “Mitochondrial dysfunction in mut methylmalonic acidemia”. FASEB Journal4 (2009): 1252-1261.
  9. Kölker S., et al. “Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation”. Journal of Inherited Metabolic Disease4 (2013): 635-644.
  10. El-Hattab AW., et al. “Molecular and clinical spectra of FBXL4 deficiency”. Human Mutation12 (2017): 1649-1659.
  11. Gai X., et al. “Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy”. American Journal of Human Genetics 3 (2013): 482-495.
  12. Bonnen PE., et al. “Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance”. American Journal of Human Genetics3 (2013): 471-481.
  13. Huemer M., et al. “Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations”. Journal of Inherited Metabolic Disease5 (2015): 905-914.
  14. Steward CG., et al. “Neutropenia in Barth syndrome: characteristics, risks, and management”. Current Opinion on Hematology1 (2019): 6-15.
  15. Clarke SLN., et al. “Barth syndrome”. Orphanet Journal of Rare Diseases 8 (2013): 23.
  16. Schiff M., et al. “Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature”. Journal of Medical Genetics12 (2017): 843-851.
×

Citation

Citation: Melis Kose and Yeşim Oymak. “Haematological Manifestations of Inborn Errors of Metabolism". Acta Scientific Paediatrics 4.1 (2021): 02-05.



Indexed In



News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is January 25, 2021.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of “Best Article of the Issue”.
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.
  • Contact US