Article

A missense mutation in PDHB gene: identification of the patient with Pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

2024-07-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Pyruvate dehydrogenase (PDH) deficiency is a common cause of primary refractory lactic acidosis. PDH E1β (<italic>PDHB</italic>) subunit gene mutation is rare causes of PDH deficiency. We described a missense mutation of <italic>PDHB</italic> gene in a neonate with PDH deficiency, and verify the mutation damages PDH activity <italic>in vitro</italic>. <bold>Meth...

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Literature Corpus work: 55530977-a4de-5382-9cfe-f12e456a9b9f
DOI: 10.21203/rs.3.rs-4473564/v1

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