title: Propionic acidemia mimicking diabetic ketoacidosis.
abstract: Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplained infant deaths was helpful in reaching the correct diagnosis. In response to therapy, the patient regained consciousness without neurologic deficits and had normal examination. This is, to our knowledge, the first case report of late-onset propionic acidemia that had this presentation and survived.
authors.affiliation: Metabolic Unit, Makassed Hospital, Jerusalem, Israel; Pediatric Department, Makassed Hospital, Jerusalem, Israel. imaddweikat@yahoo.ca
authors.forename: Imad M
authors.initials: IM
authors.lastname: Dweikat
authors.forename: Enas N
authors.initials: EN
authors.lastname: Naser
authors.forename: Abdulsalam I
authors.initials: AI
authors.lastname: Abu Libdeh
authors.forename: Osama J
authors.initials: OJ
authors.lastname: Naser
authors.forename: Najwan N
authors.initials: NN
authors.lastname: Abu Gharbieh
authors.forename: Nizar F
authors.initials: NF
authors.lastname: Maraqa
authors.forename: Bassam Y
authors.initials: BY
authors.lastname: Abu Libdeh
mesh_terms: D016883:Diabetic Ketoacidosis / Q000175:diagnosis* / Q000503:physiopathology; D004032:Diet; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D056693:Propionic Acidemia / Q000175:diagnosis* / Q000178:diet therapy / Q000503:physiopathology