CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.

Autor:	Wong SS; Department of Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Yuen LY; Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Kan E; Department of Radiology, Hong Kong Children's Hospital, Hong Kong, China., Blau N; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland., Rodenburg R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., Lam CW; Department of Pathology, The University of Hong Kong, Hong Kong, China., Wong VC; Department of Paediatric and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mochel F; AP-HP, Pitié-Salpêtrière University Hospital, Department of Medical Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies, Paris, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau, ICM, Paris, France., Wevers RA; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., Fung CW; Department of Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Nov 21; Vol. 38, pp. 101023. Date of Electronic Publication: 2023 Nov 21 (Print Publication: 2024).
DOI:	10.1016/j.ymgmr.2023.101023
Abstrakt:	With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the CYP2U1 gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with CYP2U1 bi-allelic pathogenic variants with cerebral folate deficiency who were treated for over a decade with folinic acid supplement. Patients have remained stable under therapy. Competing Interests: All authors declare that they have no conflict of interest. (© 2023 The Authors. Published by Elsevier Inc.)
Databáze:	MEDLINE
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