Diagnostic challenges in pyruvate kinase deficiency

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Abstract

Red cell pyruvate kinase deficiency is a rare congenital, nonspherocytic hemolytic anemia caused by a glycolytic defect that is due to compound heterozygous or homozygous mutations in the PKLR gene on chromosome 1q21. The article presents analytical review of literature and the clinical case of pyruvate kinase deficiency. Patient's parents agreed to use personal dats and photos in research and publications.

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F. R. Khadzhieva

Morozov Children’s City Clinical Hospital, Department of Health in Moscow

Author for correspondence.
Email: fatima09876@bk.ru
ORCID iD: 0000-0001-9081-5120

Hematologist of the Outpatient Department №3 of the Consultative and Diagnostic Center,

119049, Moscow, 4th Dobryninskiy Per., 1/9

Russian Federation

S. N. Mushanova

Morozov Children’s City Clinical Hospital, Department of Health in Moscow

ORCID iD: 0000-0002-4070-3064
119049, Moscow, 4th Dobryninskiy Per., 1/9 Russian Federation

T. N. Kekeeva

Morozov Children’s City Clinical Hospital, Department of Health in Moscow

ORCID iD: 0000-0002-4986-5748
119049, Moscow, 4th Dobryninskiy Per., 1/9 Russian Federation

I. N. Lavrentyeva

Morozov Children’s City Clinical Hospital, Department of Health in Moscow

ORCID iD: 0000-0003-2747-695X
119049, Moscow, 4th Dobryninskiy Per., 1/9 Russian Federation

E. V. Raykina

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of Russian Federation

ORCID iD: 0000-0002-7634-2053
Moscow Russian Federation

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Copyright (c) 2025 Khadzhieva F.R., Mushanova S.N., Kekeeva T.N., Lavrentyeva I.N., Raykina E.V.

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