5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

Abstract Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10‐methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous MTHFS variant NM_006441.3(MTHFS):c.434G > A, p.Arg145Gin, which has been descri...

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Bibliographic Details
Main Authors: Lelde Liepina, Desiree E. C. Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie‐Claire deWit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J. Blom
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:JIMD Reports
Subjects:
5,10‐methenyltetrahydrofolate synthetase
cerebral hypomyelination
folate
MTHFS
neurometabolic
Online Access:https://doi.org/10.1002/jmd2.12409

Internet

https://doi.org/10.1002/jmd2.12409

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