Document Detail

Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.
MedLine Citation:
PMID:  19697151     Owner:  NLM     Status:  In-Data-Review    
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.
A Chaabene-Masmoudi; F Mesrati; J Zittoun; P Landrieu
Publication Detail:
Type:  Journal Article     Date:  2009-08-21
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  -     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2012-08-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Department of Pediatric Neurology, CHU Paris-Sud, 94270, Le Kremlin-Bicêtre, France.
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