作者
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
发表日期
2016/1
期刊
Journal of inherited metabolic disease
卷号
39
页码范围
115-124
出版商
Springer Netherlands
简介
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.
Results
Thirty-three patients (mean age at follow-up 11.4 years; four deceased; median age at first presentation 5 weeks; 17 females) were included. Patients with very low (<1.5 %) mean control values of enzyme activity (n = 14) presented earlier and with a pattern of feeding problems, encephalopathy …
学术搜索中的文章
M Huemer, R Mulder-Bleile, P Burda, DS Froese… - Journal of inherited metabolic disease, 2016