Document Detail

Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant.
MedLine Citation:
PMID:  11896528     Owner:  NLM     Status:  MEDLINE    
The C677T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) predicts substitution of valine for alanine at residue 223 (A223V). This thermolabile form of MTHFR has 50% reduced activity, has been associated with hyperhomocystinemia, and is a described risk factor for thrombosis in adults.(1-3) In addition, it has been associated with birth defects in the infants of affected mothers and with recurrent fetal losses.(4-6) We report the occurrence of sinovenous thrombosis in a newborn infant who presented with seizures. Both infant and mother were subsequently identified as having homozygous C677T alleles for MTHFR.
Jennifer L Grow; Paola J Fliman; Steven W Pipe
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  22     ISSN:  0743-8346     ISO Abbreviation:  J Perinatol     Publication Date:  2002 Mar 
Date Detail:
Created Date:  2002-03-22     Completed Date:  2002-04-23     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  175-8     Citation Subset:  IM    
Division of Neonatal-Perinatal Medicine, University of Michigan, Ann Arbor, MI, USA.
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MeSH Terms
Enzyme Stability
Follow-Up Studies
Infant, Newborn
Intracranial Thrombosis / complications,  diagnosis*
Magnetic Resonance Imaging
Metabolism, Inborn Errors / diagnosis*
Methylenetetrahydrofolate Reductase (NADPH2)
Mutation / genetics*
Oxidoreductases Acting on CH-NH Group Donors / genetics*
Pregnancy Complications
Seizures / diagnosis*,  etiology
Reg. No./Substance:
EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC Reductase (NADPH2)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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