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

2015; Springer Science+Business Media; Volume: 39; Issue: 1 Linguagem: Inglês

10.1007/s10545-015-9860-6

1573-2665

Martina Huemer, Regina Mulder‐Bleile, Patricie Burda, D. Sean Froese, Terttu Suormala, Bruria Ben Zeev, Patrick F. Chinnery, Carlo Dionisi‐Vici, Dries Dobbelaere, Gülden Gökçay, Mübeccel Demirkol, Johannes Häberle, Alexander Lossos, Eugen Mengel, Andrew A. M. Morris, Klary E. Niezen‐Koning, Barbara Plecko, Rossella Parini, Dariusz Rokicki, Manuel Schiff, Mareike Schimmel, A Sewell, Wolfgang Sperl, Ute Spiekerkoetter, Beat Steinmann, Grazia Taddeucci, J.M. Trejo-Gabriel-Galán, Friedrich K. Trefz, Megumi Tsuji, Marı́a Antonia Vilaseca, Jürgen‐Christoph von Kleist-Retzow, Valerie Walker, J Zeman, Matthias R. Baumgartner, Brian Fowler,

Metabolism and Genetic Disorders

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.