A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat

Tekin Aksu, Neşe Yarali, Elisa Fermo, Anna Marcello, Şadan Hacisalihoǧlu, Paola Bianchi, Namik Y. Özbek

Research output: Contribution to journalArticle

Abstract

Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. For this reason, we excluded the immunologic or infectious nature (malaria, babesia), which may play a role in the worsening of anemia. Red blood cell enzyme assay showed the presence of a significant increase in other enzyme activities, except for PK, suggesting a PK deficiency in the patient. The molecular analysis of the PK-LR gene revealed the presence of a novel homozygote missense mutation (c.581G>C, p.Arg194Pro). The mutant enzyme displayed heat instability. In addition, we analyzed bilirubin uridine diphosphate (UDP)-glucuronosyltransferase 1A1 gene that revealed a heterozygous state ([TA]6/[TA]7). After a clear diagnosis of PK deficiency, the patient underwent splenectomy. ©

Original languageEnglish
Pages (from-to)e458-e460
JournalJournal of Pediatric Hematology/Oncology
Volume40
Issue number7
DOIs
Publication statusPublished - Oct 1 2018

Fingerprint

Pyruvate Kinase
Hot Temperature
Congenital Hemolytic Anemia
Babesia
Glucuronosyltransferase
Uridine Diphosphate
Hemolytic Anemia
Homozygote
Enzyme Assays
Splenectomy
Missense Mutation
Enzymes
Bilirubin
Genes
Malaria
Anemia
Erythrocytes
Pyruvate Kinase Deficiency of Red Cells

Keywords

  • pyruvate kinase deficiency
  • red cell enzyme abnormalities
  • thermolabile enzyme

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. / Aksu, Tekin; Yarali, Neşe; Fermo, Elisa; Marcello, Anna; Hacisalihoǧlu, Şadan; Bianchi, Paola; Özbek, Namik Y.

In: Journal of Pediatric Hematology/Oncology, Vol. 40, No. 7, 01.10.2018, p. e458-e460.

Research output: Contribution to journalArticle

Aksu, Tekin ; Yarali, Neşe ; Fermo, Elisa ; Marcello, Anna ; Hacisalihoǧlu, Şadan ; Bianchi, Paola ; Özbek, Namik Y. / A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. In: Journal of Pediatric Hematology/Oncology. 2018 ; Vol. 40, No. 7. pp. e458-e460.
@article{5257cdc0c08c4841b8d703467b0cf3bd,
title = "A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat",
abstract = "Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. For this reason, we excluded the immunologic or infectious nature (malaria, babesia), which may play a role in the worsening of anemia. Red blood cell enzyme assay showed the presence of a significant increase in other enzyme activities, except for PK, suggesting a PK deficiency in the patient. The molecular analysis of the PK-LR gene revealed the presence of a novel homozygote missense mutation (c.581G>C, p.Arg194Pro). The mutant enzyme displayed heat instability. In addition, we analyzed bilirubin uridine diphosphate (UDP)-glucuronosyltransferase 1A1 gene that revealed a heterozygous state ([TA]6/[TA]7). After a clear diagnosis of PK deficiency, the patient underwent splenectomy. {\circledC}",
keywords = "pyruvate kinase deficiency, red cell enzyme abnormalities, thermolabile enzyme",
author = "Tekin Aksu and Neşe Yarali and Elisa Fermo and Anna Marcello and Şadan Hacisalihoǧlu and Paola Bianchi and {\"O}zbek, {Namik Y.}",
year = "2018",
month = "10",
day = "1",
doi = "10.1097/MPH.0000000000001073",
language = "English",
volume = "40",
pages = "e458--e460",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams and Wilkins",
number = "7",

}

TY - JOUR

T1 - A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat

AU - Aksu, Tekin

AU - Yarali, Neşe

AU - Fermo, Elisa

AU - Marcello, Anna

AU - Hacisalihoǧlu, Şadan

AU - Bianchi, Paola

AU - Özbek, Namik Y.

PY - 2018/10/1

Y1 - 2018/10/1

N2 - Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. For this reason, we excluded the immunologic or infectious nature (malaria, babesia), which may play a role in the worsening of anemia. Red blood cell enzyme assay showed the presence of a significant increase in other enzyme activities, except for PK, suggesting a PK deficiency in the patient. The molecular analysis of the PK-LR gene revealed the presence of a novel homozygote missense mutation (c.581G>C, p.Arg194Pro). The mutant enzyme displayed heat instability. In addition, we analyzed bilirubin uridine diphosphate (UDP)-glucuronosyltransferase 1A1 gene that revealed a heterozygous state ([TA]6/[TA]7). After a clear diagnosis of PK deficiency, the patient underwent splenectomy. ©

AB - Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. For this reason, we excluded the immunologic or infectious nature (malaria, babesia), which may play a role in the worsening of anemia. Red blood cell enzyme assay showed the presence of a significant increase in other enzyme activities, except for PK, suggesting a PK deficiency in the patient. The molecular analysis of the PK-LR gene revealed the presence of a novel homozygote missense mutation (c.581G>C, p.Arg194Pro). The mutant enzyme displayed heat instability. In addition, we analyzed bilirubin uridine diphosphate (UDP)-glucuronosyltransferase 1A1 gene that revealed a heterozygous state ([TA]6/[TA]7). After a clear diagnosis of PK deficiency, the patient underwent splenectomy. ©

KW - pyruvate kinase deficiency

KW - red cell enzyme abnormalities

KW - thermolabile enzyme

UR - http://www.scopus.com/inward/record.url?scp=85054149502&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054149502&partnerID=8YFLogxK

U2 - 10.1097/MPH.0000000000001073

DO - 10.1097/MPH.0000000000001073

M3 - Article

VL - 40

SP - e458-e460

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

IS - 7

ER -