The Turkish Journal of Pediatrics 2022 , Vol 64 , Num 5
Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I
Ayça Koca Yozgat 1 ,Arzu Yazal Erdem 1 ,Dilek Kaçar 1 ,Namık Yaşar Özbek 1 ,Neşe Yaralı 1
1 Department of Pediatric Hematology Oncology, Ankara City Hospital of Ankara Health Sciences University, Ankara, Türkiye DOI : 10.24953/turkjped.2021.4704 Background. Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I.

Case. The siblings were referred to our hospital for evaluation of anemia when they were newborns. Their PK enzyme activities were normal. Their bone marrow aspirations and electron microscopies showed CDA-like findings. A CDA panel with next-generation sequencing showed no mutation. Though their PK enzyme levels were normal, a molecular study of the PKLR gene showed a homozygous variant c.1623G>C (p.Lys541Asn) in exon 12 of our patients.

Conclusions. Although the diagnosis of pyruvate kinase deficiency is difficult, it can be confused with many other diagnoses. Bone marrow findings of these cases are similar to congenital dyserythropoietic anemia. In patients with normal pyruvate kinase enzyme levels, the diagnosis cannot be excluded and genetic analysis is required. Keywords : pyruvate kinase deficiency, congenital dyserythropoietic anemia, PKLR gene

Copyright © 2016