title: Successful pregnancy in severe methylmalonic acidaemia.
abstract: Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis. With improved and intensive treatment, these patients are living into adulthood, but many experience late-onset disease complications such as chronic renal failure, chronic pancreatitis and osteopenia. We report the successful delivery of a healthy baby to a 20-year-old woman with vitamin B12-unresponsive methylmalonic acidaemia who has these late-onset manifestations of the disease and had plasma methylmalonic acid concentrations of 1900 mumol/L during the first trimester of pregnancy.
authors.affiliation: Department of Human Genetics, Mount Sinai Medical Center, NY 10029, USA.
authors.forename: M P
authors.initials: MP
authors.lastname: Wasserstein
authors.forename: S
authors.initials: S
authors.lastname: Gaddipati
authors.forename: S E
authors.initials: SE
authors.lastname: Snyderman
authors.forename: K
authors.initials: K
authors.lastname: Eddleman
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
authors.forename: C
authors.initials: C
authors.lastname: Sansaricq
mesh_terms: D000138:Acidosis; D000328:Adult; D005260:Female; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D014805:Vitamin B 12; D006879:Hydroxocobalamin