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Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency
Author(s) -
ChaabeneMasmoudi A.,
Mesrati F.,
Zittoun J.,
Landrieu P.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-1240-7
Subject(s) - methylenetetrahydrofolate reductase , medicine , peripheral neuropathy , folinic acid , betaine , pregnancy , pediatrics , gastroenterology , endocrinology , chemotherapy , diabetes mellitus , biochemistry , biology , genetics , fluorouracil , gene , genotype
Summary 5,10‐Methylenetetrahydrofolate reductase (MTHFR) deficiency was diagnosed in a 1‐month‐old baby with signs of cerebral distress. Under a classic treatment using methionine supplementation, methyl donor (betaine) folinic acid, vitamin B 6 and vitamin B 12 , the neuromotor development was satisfactory. At 15 years of age, however, despite no clear modification of the biochemical markers in body fluids, she developed a clinically overt peripheral axonal neuropathy. Only partial clinical improvement was obtained after reinforcement of betaine doses. Surveillance of the peripheral nerve is indicated in MTHFR deficiency, including in the infantile form with a good therapeutic compliance.