Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

doi:10.1016/j.gim.2025.101587

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Article

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2025

German Hannah M, Zaki Maha S, Usmani Muhammad A, Karagoz Irem, Efthymiou Stephanie, Abdel-Hamid Mohamed S, Arabiyat Haya Abdelhafez, Ghaffar Amama, Shahzad Mohsin, van Bokhoven Hans, Ahmed Zubair M, Yaghini Omid, Hosseini Neda, Majidinezhad Maede, Alavi Shahryar, Bosma Marjolein, Broeks Melissa H, Türkdoğan Dilşad, Suri Mohnish, Laura de Godoy Laiz, Verhoeven-Duif Nanda M, Riazuddin Sheikh, Gleeson Joseph G, Alves Cesar, Jans Judith J M, Riazuddin Saima, Houlden Henry, Maroofian Reza

Abstract excerpt

PURPOSE: Glutamic-oxaloacetic transaminase (GOT), also known as aspartate aminotransferase, catalyzes the reversible transamination of oxaloacetate and glutamate to aspartate and α-ketoglutarate. Two isoforms, cytosolic (GOT1) and mitochondrial (GOT2), are integral to the malate-aspartate shuttle, a key regulator of intracellular redox homeostasis. Recently, 5 patients with biallelic variants in GOT2 were...

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Identifiers

PMID: 41001736
DOI: 10.1016/j.gim.2025.101587
PMCID: PMC13108455

Genes

GOT2
GOT1

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