title: Methylmalonic aciduria in pregnancy: a case report.
abstract: Methylmalonic aciduria is a rare metabolic disorder of amino acid metabolism that is characterized by accumulation of large amounts of methylmalonic acid in the blood and urine. To our knowledge this is the first case report of a patient with methylmalonic aciduria who carried a pregnancy to term; the outcome was favorable despite high levels of methylmalonic acid in the serum and urine.
authors.affiliation: Department of Obstetrics and Gynecology, Ohio State University, Columbus.
authors.forename: E
authors.initials: E
authors.lastname: Diss
authors.forename: J
authors.initials: J
authors.lastname: Iams
authors.forename: N
authors.initials: N
authors.lastname: Reed
authors.forename: D S
authors.initials: DS
authors.lastname: Roe
authors.forename: C
authors.initials: C
authors.lastname: Roe
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors; D008764:Methylmalonic Acid / Q000652:urine*; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome
chemical_list: D008764:Methylmalonic Acid