May 29, 2024British Journal of Haematology

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

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Pyruvate kinase to hexokinase ratio achieves superior diagnostic sensitivity compared to conventional enzyme assays for identifying pyruvate kinase deficiency.
Low pyruvate kinase levels occurred in only 15 of 23 patients, while genetic analysis uncovered two novel intronic variants in the cohort.
Calls for total PKLR gene sequencing to resolve suspected non-spherocytic haemolytic anaemia, especially when initial pyruvate kinase enzyme levels appear normal.

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Implication

Multicenter evaluation demonstrates superior diagnostic accuracy for the pyruvate kinase ratio in paediatric patients, highlighting the value of full PKLR gene sequencing.

Cite This Study

Gök et al. (2024) studied this question.

synapsesocial.com/papers/68e67e28b6db643587608014 https://doi.org/10.1111/bjh.19575

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Implication

Multicenter evaluation demonstrates superior diagnostic accuracy for the pyruvate kinase ratio in paediatric patients, highlighting the value of full PKLR gene sequencing.

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

Key Points

Discussion

Implication

Cite This Study

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

Key Points

Discussion

Implication

Cite This Study

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