Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D Sean Froese, Terttu Suormala, Bruria Ben Zeev, Patrick F Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Mübeccel Demirkol, Johannes Häberle, Alexander Lossos, Eugen Mengel, Andrew A Morris, Klary E Niezen-Koning, Barbara Plecko, Rossella Parini, Dariusz Rokicki, Manuel Schiff, Mareike Schimmel, Adrian C Sewell, Wolfgang Sperl, Ute Spiekerkoetter, Beat Steinmann, Grazia Taddeucci, Jose M Trejo-Gabriel-Galán, Friedrich Trefz, Megumi Tsuji, María Antònia Vilaseca, Jürgen-Christoph von Kleist-Retzow, Valerie Walker, Jiri Zeman, Matthias R Baumgartner, Brian Fowler
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. METHODS: Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire. MTHFR activity was measured in primary fibroblasts; genomic DNA was extracted from cultured fibroblasts...
January 2016: Journal of Inherited Metabolic Disease