Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

doi:10.1093/hmg/ddac246

Article

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Human molecular genetics - 6 Mar 2023

Arribas-Carreira Laura, Dallabona Cristina, Swanson Michael A, Farris Joseph, Østergaard Elsebet, Tsiakas Konstantinos, Hempel Maja, Aquaviva-Bourdain Cecile, Koutsoukos Stefanos, Stence Nicholas V, Magistrati Martina, Spector Elaine B, Kronquist Kathryn, Christensen Mette, Karstensen Helena G, Feichtinger René G, Achleitner Melanie T, Lawrence Merritt Ii J, Pérez Belén, Ugarte Magdalena, Grünewald Stephanie, Riela Anthony R, Julve Natalia, Arnoux Jean-Baptiste, Haldar Kasturi, Donnini Claudia, Santer René, Lund Allan M, Mayr Johannes A, Rodriguez-Pombo Pilar, Van Hove Johan L K

Abstract excerpt

Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-carbon metabolism through its involvement in glycine cleavage enzyme system, intersecting two vital roles for cell survival. Here, we report six patients with biallelic...

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Abstract excerpt

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