New variants expand the neurological phenotype of COQ7 deficiency.

doi:10.1002/jimd.12776

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Article

New variants expand the neurological phenotype of COQ7 deficiency.

Journal of inherited metabolic disease - 1 Sept 2024

Fabra María Alcázar, Paredes-Fuentes Abraham J, Torralba Carnerero Manuel, Moreno Férnandez de Ayala Daniel J, Arroyo Luque Antonio, Sánchez Cuesta Ana, Staiano Carmine, Sanchez-Pintos Paula, Luz Couce María, Tomás Miguel, Marco-Hernández Ana Victoria, Orellana Carmen, Martínez Francisco, Roselló Mónica, Caro Alfonso, Oltra Soler Juan Silvestre, Monfort Sandra, Sánchez Alejandro, Rausell Dolores, Vitoria Isidro, Del Toro Mireia, Garcia-Cazorla Angels, Julia-Palacios Natalia A, Jou Cristina, Yubero Delia, López Luis Carlos, Hernández Camacho Juan Diego, López Lluch Guillermo, Ballesteros Simarro Manuel, Rodríguez Aguilera Juan Carlos, Calvo Gloria Brea, Cascajo Almenara María Victoria, Artuch Rafael, Santos-Ocaña Carlos

Abstract excerpt

The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3-demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ10 deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ10 primary deficiency caused by five...

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PMID: 38973597
DOI: 10.1002/jimd.12776

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