CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
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 C...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426923000691 |
| _version_ | 1827341526663954432 |
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| author | Sheila Suet-Na Wong Liz Yuet-Ping Yuen Elaine Kan Nenad Blau Richard Rodenburg Ching-wan Lam Virginia Chun-Nei Wong Fanny Mochel Ron A. Wevers Cheuk-Wing Fung |
| author_facet | Sheila Suet-Na Wong Liz Yuet-Ping Yuen Elaine Kan Nenad Blau Richard Rodenburg Ching-wan Lam Virginia Chun-Nei Wong Fanny Mochel Ron A. Wevers Cheuk-Wing Fung |
| author_sort | Sheila Suet-Na Wong |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T21:44:18Z |
| format | Article |
| id | doaj.art-3f9340edc6f641e7b32c95cdf0c3bfbd |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-03-07T21:44:18Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-3f9340edc6f641e7b32c95cdf0c3bfbd2024-02-26T04:15:31ZengElsevierMolecular Genetics and Metabolism Reports2214-42692024-03-0138101023CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong0Liz Yuet-Ping Yuen1Elaine Kan2Nenad Blau3Richard Rodenburg4Ching-wan Lam5Virginia Chun-Nei Wong6Fanny Mochel7Ron A. Wevers8Cheuk-Wing Fung9Department of Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, ChinaDepartment of Pathology, Hong Kong Children's Hospital, Hong Kong, ChinaDepartment of Radiology, Hong Kong Children's Hospital, Hong Kong, ChinaDivisions of Metabolism, University Children's Hospital, Zürich, SwitzerlandTranslational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the NetherlandsDepartment of Pathology, The University of Hong Kong, Hong Kong, ChinaDepartment of Paediatric and Adolescent Medicine, The University of Hong Kong, Hong Kong, ChinaAP-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, FranceTranslational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the NetherlandsDepartment of Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China; Corresponding author at: Doctors' Office, 9/F, Tower B, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Kowloon, Hong Kong SAR, China.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.http://www.sciencedirect.com/science/article/pii/S2214426923000691CYP2U1Cerebral folate deficiencyCerebral folateFolinic acidSpastic paraplegia 565-methyltetrahydrofolate |
| spellingShingle | Sheila Suet-Na Wong Liz Yuet-Ping Yuen Elaine Kan Nenad Blau Richard Rodenburg Ching-wan Lam Virginia Chun-Nei Wong Fanny Mochel Ron A. Wevers Cheuk-Wing Fung CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers Molecular Genetics and Metabolism Reports CYP2U1 Cerebral folate deficiency Cerebral folate Folinic acid Spastic paraplegia 56 5-methyltetrahydrofolate |
| title | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers |
| title_full | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers |
| title_fullStr | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers |
| title_full_unstemmed | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers |
| title_short | CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers |
| title_sort | cyp2u1 an emerging treatable neurometabolic disease with cerebral folate deficiency in 2 chinese brothers |
| topic | CYP2U1 Cerebral folate deficiency Cerebral folate Folinic acid Spastic paraplegia 56 5-methyltetrahydrofolate |
| url | http://www.sciencedirect.com/science/article/pii/S2214426923000691 |
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