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Article

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Clinical genetics - 1 Feb 2025

Almontashiri Naif A M, Alharby Essa, Saleh Mohammed, Abu-Farha Mohamed, Alasmari Ali, Gebbia Marinella, Hiesl Charlotte, Peake Roy W A, Amr Sami Samir, Boles Eckhard, Roth Frederick P, Abubaker Jehad

Abstract excerpt

Malate is an important dicarboxylic acid produced from fumarate in the tricarboxylic acid cycle. Deficiencies of fumarate hydrolase (FH) and malate dehydrogenase (MDH), responsible for malate formation and metabolism, respectively, are known to cause recessive forms of neurodevelopmental disorders (NDDs). The malic enzyme isoforms, malic enzyme 1 (ME1) and 2 (ME2), are required for the conversion of malate to...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39401966
DOI: 10.1111/cge.14632

Genes

ME2
FH
ME1

Variants

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