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

TitleCYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
Authors
Keywords5-methyltetrahydrofolate
5-MTHF
Cerebral folate
Cerebral folate deficiency
CYP2U1
Folinic acid
Spastic paraplegia 56
Issue Date1-Mar-2024
PublisherElsevier
Citation
Molecular Genetics and Metabolism Reports, 2024, v. 38 How to Cite?
Abstract

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.


Persistent Identifierhttp://hdl.handle.net/10722/339342
ISSN
2023 Impact Factor: 1.8
2023 SCImago Journal Rankings: 0.639
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWong, Sheila Suet-Na-
dc.contributor.authorYuen, Liz Yuet-Ping-
dc.contributor.authorKan, Elaine-
dc.contributor.authorBlau, Nenad-
dc.contributor.authorRodenburg, Richard-
dc.contributor.authorLam, Ching-wan-
dc.contributor.authorWong, Virginia Chun-Nei-
dc.contributor.authorMochel, Fanny-
dc.contributor.authorWevers, Ron A-
dc.contributor.authorFung, Cheuk-Wing-
dc.date.accessioned2024-03-11T10:35:50Z-
dc.date.available2024-03-11T10:35:50Z-
dc.date.issued2024-03-01-
dc.identifier.citationMolecular Genetics and Metabolism Reports, 2024, v. 38-
dc.identifier.issn2214-4269-
dc.identifier.urihttp://hdl.handle.net/10722/339342-
dc.description.abstract<p>With the rapid advancement of medical technologies in genomic and <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/molecular-medicine" title="Learn more about molecular medicine from ScienceDirect's AI-generated Topic Pages">molecular medicine</a>, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/autosomal-recessive-inheritance" title="Learn more about autosomal recessive from ScienceDirect's AI-generated Topic Pages">autosomal recessive</a> forms of neurodegenerative disorders caused by pathogenic variants in the <em>CYP2U1</em> gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with <em>CYP2U1</em> bi-allelic pathogenic variants with cerebral <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/folate-deficiency" title="Learn more about folate deficiency from ScienceDirect's AI-generated Topic Pages">folate deficiency</a> who were treated for over a decade with folinic acid supplement. Patients have remained stable under therapy.<br></p>-
dc.languageeng-
dc.publisherElsevier-
dc.relation.ispartofMolecular Genetics and Metabolism Reports-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subject5-methyltetrahydrofolate-
dc.subject5-MTHF-
dc.subjectCerebral folate-
dc.subjectCerebral folate deficiency-
dc.subjectCYP2U1-
dc.subjectFolinic acid-
dc.subjectSpastic paraplegia 56-
dc.titleCYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers-
dc.typeArticle-
dc.identifier.doi10.1016/j.ymgmr.2023.101023-
dc.identifier.scopuseid_2-s2.0-85177892927-
dc.identifier.volume38-
dc.identifier.isiWOS:001122953100001-
dc.identifier.issnl2214-4269-

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