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- Publisher Website: 10.1016/j.ymgmr.2023.101023
- Scopus: eid_2-s2.0-85177892927
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Article: CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
| Title | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers |
|---|---|
| Authors | |
| Keywords | 5-methyltetrahydrofolate 5-MTHF Cerebral folate Cerebral folate deficiency CYP2U1 Folinic acid Spastic paraplegia 56 |
| Issue Date | 1-Mar-2024 |
| Publisher | Elsevier |
| 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 Identifier | http://hdl.handle.net/10722/339342 |
| ISSN | 2023 Impact Factor: 1.8 2023 SCImago Journal Rankings: 0.639 |
| ISI Accession Number ID |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Wong, Sheila Suet-Na | - |
| dc.contributor.author | Yuen, Liz Yuet-Ping | - |
| dc.contributor.author | Kan, Elaine | - |
| dc.contributor.author | Blau, Nenad | - |
| dc.contributor.author | Rodenburg, Richard | - |
| dc.contributor.author | Lam, Ching-wan | - |
| dc.contributor.author | Wong, Virginia Chun-Nei | - |
| dc.contributor.author | Mochel, Fanny | - |
| dc.contributor.author | Wevers, Ron A | - |
| dc.contributor.author | Fung, Cheuk-Wing | - |
| dc.date.accessioned | 2024-03-11T10:35:50Z | - |
| dc.date.available | 2024-03-11T10:35:50Z | - |
| dc.date.issued | 2024-03-01 | - |
| dc.identifier.citation | Molecular Genetics and Metabolism Reports, 2024, v. 38 | - |
| dc.identifier.issn | 2214-4269 | - |
| dc.identifier.uri | http://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.language | eng | - |
| dc.publisher | Elsevier | - |
| dc.relation.ispartof | Molecular Genetics and Metabolism Reports | - |
| dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
| dc.subject | 5-methyltetrahydrofolate | - |
| dc.subject | 5-MTHF | - |
| dc.subject | Cerebral folate | - |
| dc.subject | Cerebral folate deficiency | - |
| dc.subject | CYP2U1 | - |
| dc.subject | Folinic acid | - |
| dc.subject | Spastic paraplegia 56 | - |
| dc.title | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers | - |
| dc.type | Article | - |
| dc.identifier.doi | 10.1016/j.ymgmr.2023.101023 | - |
| dc.identifier.scopus | eid_2-s2.0-85177892927 | - |
| dc.identifier.volume | 38 | - |
| dc.identifier.isi | WOS:001122953100001 | - |
| dc.identifier.issnl | 2214-4269 | - |