5,10-methenyltetrahydrofolate synthetase deficiency:An extreme rare defect of folate metabolism in two Dutch siblings
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 described before. At baseline, both patients showed moderate hyperhomocysteinemia, decreased 5-methyltetrahydrofolate (5MTHF), and increased 5-formyltetrahydrofolate (5-FTHF) in whole blood. In CSF, 5MTHF levels were in the low-normal range and 5-FTHF was strongly increased. In our novel enzyme assay, MTHFS activi... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2024 |
Reihe/Periodikum: | Liepina , L , Smith , D E C , Huidekoper , H , Zeidler , S , Wamelink , M , de Wit , M-C , Wilke , M , Ruijter , G , Bierau , J R & Blom , H J 2024 , ' 5,10-methenyltetrahydrofolate synthetase deficiency : An extreme rare defect of folate metabolism in two Dutch siblings ' , JIMD Reports , vol. 65 , no. 2 , pp. 49-55 . https://doi.org/10.1002/jmd2.12409 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27464932 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://research.vumc.nl/en/publications/6e05f926-f728-4feb-8ec2-1043c9856a1c |