| Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant. | |
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MedLine Citation:
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PMID: 11896528 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Jennifer L Grow; Paola J Fliman; Steven W Pipe |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 2002-03-22 Completed Date: 2002-04-23 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 175-8 Citation Subset: IM |
Affiliation:
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Division of Neonatal-Perinatal Medicine, University of Michigan, Ann Arbor, MI, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Electroencephalography Enzyme Stability Female Follow-Up Studies Homozygote Humans Infant, Newborn Intracranial Thrombosis / complications, diagnosis* Magnetic Resonance Imaging Male Metabolism, Inborn Errors / diagnosis* Methylenetetrahydrofolate Reductase (NADPH2) Mutation / genetics* Oxidoreductases Acting on CH-NH Group Donors / genetics* Pedigree Pregnancy Pregnancy Complications Seizures / diagnosis*, etiology |
| Chemical | |
Reg. No./Substance:
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EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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