Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Date
2016
Author
Huemer, Martina
Trejo-Gabriel-Galan, Jose M.
Trefz, Friedrich
Tsuji, Megumi
Antonia Vilaseca, Maria
von Kleist-Retzow, Juergen-Christoph
Walker, Valerie
Zeman, Jiri
Baumgartner, Matthias R.
Fowler, Brian
Demirkol, Muebeccel
Gokcay, Gülden Fatma
Taddeucci, Grazia
Mulder-Bleile, Regina
Burda, Patricie
Froese, D. Sean
Suormala, Terttu
Ben Zeev, Bruria
Chinnery, Patrick F.
Dionisi-Vici, Carlo
Dobbelaere, Dries
Haeberle, Johannes
Lossos, Alexander
Mengel, Eugen
Morris, Andrew A.
Niezen-Koning, Klary E.
Plecko, Barbara
Parini, Rossella
Rokicki, Dariusz
Schiff, Manuel
Schimmel, Mareike
Sewell, Adrian C.
Sperl, Wolfgang
Spiekerkoetter, Ute
Steinmann, Beat
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Abstract
Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients.
URI
http://hdl.handle.net/20.500.12627/77599
https://doi.org/10.1007/s10545-015-9860-6
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