title: Propionic acidemia without acidemia: a case report.
abstract: Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. Metabolic acidosis is a key feature of this disease and is useful in differentiating it from nonketotic hyperglycinemia. This case report is presented because significant metabolic acidosis was not a prominent or persistent finding in this patient.
authors.affiliation: Children's Medical Center, Dayton, OH 45404-1815, USA.
authors.forename: R
authors.initials: R
authors.lastname: Ramachandran
authors.forename: J
authors.initials: J
authors.lastname: Pietz
mesh_terms: D000138:Acidosis / Q000175:diagnosis; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011422:Propionates / Q000097:blood*
chemical_list: D011422:Propionates; C029658:propionic acid