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Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök, Veysel; Leblebisatan, Göksel; Gürlek Gökçebay, Dilek; Güler, Salih; Dogan, Muhammet Ensar; Tug Bozdogan, Sevcan; Koca Yozgat, Ayça; Özcan, Alper; Pekpak Sahinoglu, Esra; Tokgöz, Hüseyin; Çil, Metin; Özemri Sag, Sebnem; Yilmaz, Ebru; Sasmaz, Hatice Ilgen; Evim, Melike Sezgin; Akbayram, Sinan; Karadogan, Meriban; Mutlu, Fatma Türkan; Boga, Ibrahim; Yeter Dogan, Burcu; Yarali, Nese; Çaliskan, Ümran; Bisgin, Atil; Temel, Sehime Gülsün; Proven, Melanie; Gibson, Kate; Demir, Büsra Seniz; Saraçoglu, Hatice; Eken, Ahmet; Karakükçü, Çigdem; Karakükçü, Musa; Günes, Adalet Meral; Özbek, Namik Yasar; Kilinç, Yurdanur; Patiroglu, Türkan; Özdemir, Mehmet Akif; Roy, Noemi B A; Ünal, Ekrem.
Afiliação
  • Gök V; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Leblebisatan G; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye.
  • Gürlek Gökçebay D; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye.
  • Güler S; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Dogan ME; Department of Medical Genetics, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Tug Bozdogan S; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.
  • Koca Yozgat A; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye.
  • Özcan A; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye.
  • Pekpak Sahinoglu E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Tokgöz H; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye.
  • Çil M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
  • Özemri Sag S; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Adana City Hospital, Adana, Türkiye.
  • Yilmaz E; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Sasmaz HI; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Evim MS; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye.
  • Akbayram S; Department of Paediatric Bone Marrow Transplantation, Adana Acibadem Hospital, Adana, Türkiye.
  • Karadogan M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Mutlu FT; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye.
  • Boga I; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Yeter Dogan B; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Yarali N; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.
  • Çaliskan Ü; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye.
  • Bisgin A; Department of Paediatric Genetic, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Temel SG; Department of Paediatric Haematology and Oncology, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Türkiye.
  • Proven M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
  • Gibson K; Department of Paediatric Haematology and Oncology, Faculty of Medicine, KTO Karatay University, Konya, Türkiye.
  • Demir BS; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.
  • Saraçoglu H; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye.
  • Eken A; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Karakükçü Ç; Department of Histology, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Karakükçü M; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Günes AM; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Özbek NY; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Kilinç Y; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Patiroglu T; Drug Application and Research Center, Erciyes University, Kayseri, Türkiye.
  • Özdemir MA; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Roy NBA; Molecular Biology and Genetics Department, Genome and Stem Cell Centre (GENKOK), Gevher Nesibe Genom and Stem Cell Institution, Erciyes University, Kayseri, Türkiye.
  • Ünal E; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Br J Haematol ; 205(1): 236-242, 2024 Jul.
Article em En | MEDLINE | ID: mdl-38811201
ABSTRACT
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PKhexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Íntrons / Erros Inatos do Metabolismo dos Piruvatos / Anemia Hemolítica Congênita não Esferocítica Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Íntrons / Erros Inatos do Metabolismo dos Piruvatos / Anemia Hemolítica Congênita não Esferocítica Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article