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Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency

✍ Scribed by Munoz, Tatiana; Patel, Jinesh; Badilla-Porras, Ramses; Kronick, Jonathan; Mercimek-Mahmutoglu, Saadet


Book ID
122266595
Publisher
Elsevier Science
Year
2015
Tongue
English
Weight
371 KB
Volume
37
Category
Article
ISSN
0387-7604

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Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological a