title: Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant.
abstract: 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.
authors.affiliation: Division of Neonatal-Perinatal Medicine, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Grow
authors.forename: Paola J
authors.initials: PJ
authors.lastname: Fliman
authors.forename: Steven W
authors.initials: SW
authors.lastname: Pipe
mesh_terms: D000328:Adult; D004569:Electroencephalography; D004795:Enzyme Stability; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020767:Intracranial Thrombosis / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications; D012640:Seizures / Q000175:diagnosis* / Q000209:etiology
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)