Document Detail

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
MedLine Citation:
PMID:  20850942     Owner:  NLM     Status:  In-Data-Review    
5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. In untreated infantile cases, it predominantly affects the central nervous system, which is sometimes fatal. On the other hand, peripheral nerve involvement is uncommon. We present a severe infantile case of MTHFR deficiency that manifested unilateral phrenic nerve palsy with communicating hydrocephalus, developmental delay and died at 11months of age. An enzymatic study confirmed MTHFR deficiency with residual activity of 0.75% of mean control values in cultured fibroblasts. Mutation analysis of the MTHFR gene revealed homozygous, tandem missense mutations c.[446G>T; 447C>T] in exon 3 of the MTHFR gene converting glycine to valine (Gly149Val). In MTHFR deficiency, betaine may improve the symptoms if started immediately after birth by reducing the level of serum homocysteine and increasing that of methionine. Our results show that we should be aware of possible inborn errors of folate metabolism such as MTHFR deficiency, in infants with unexplained developmental delay manifesting rapidly progressive polyneuropathy.
Megumi Tsuji; Atsushi Takagi; Kiyoko Sameshima; Mizue Iai; Sumimasa Yamashita; Hiroko Shinbo; Noritaka Furuya; Kenji Kurosawa; Hitoshi Osaka
Publication Detail:
Type:  Journal Article     Date:  2010-09-20
Journal Detail:
Title:  Brain & development     Volume:  33     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-05-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  521-4     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
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