title: Propionic acidemia: unusual course with late onset and fatal outcome.
abstract: A 4 1/2-year-old girl with a so far unremarkable medical history became comatose during a simple infection. She showed severe metabolic acidosis without elevation of lactate. In blood the branched-chain amino acids were increased. In urine ketone-bodies, increased 3-OH-isovaleric and 3-OH propionic acid excretion were detected, while methylmalonate was not found. The profile of acylcarnitines revealed increased propionylcarnitine. Despite restriction of protein supply, high-caloric nutrition, correction of acidosis, and supplementation of biotin and carnitine, the girl died 2 days after admission due to arrhythmia of the heart. In skin fibroblasts the activity of propionyl-coenzyme A carboxylase (PCC) was markedly decreased. Mutation analysis confirmed the diagnosis of propionic acidemia (PA) with compound heterozygosity for 2 new missense mutations L417W/Q293E in the PCCA gene, with the mother carrying the Q293E and the father the L417W mutation. Late-onset PA should be included in the differential diagnosis of unclear coma. Determination of the acylcarnitines using tandem mass spectrometry as well as organic acids in urine is recommended.
authors.affiliation: Department of Paediatrics, Hannover Medical School, Hannover, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Lücke
authors.forename: Celia
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: Matthias
authors.initials: M
authors.lastname: Baumgartner
authors.forename: Brian
authors.initials: B
authors.lastname: Fowler
authors.forename: Stefanie
authors.initials: S
authors.lastname: Sander
authors.forename: Michael
authors.initials: M
authors.lastname: Sasse
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
authors.forename: Anibh Martin
authors.initials: AM
authors.lastname: Das
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics; D020125:Mutation, Missense; D011422:Propionates / Q000097:blood / Q000378:metabolism* / Q000652:urine
chemical_list: D011422:Propionates; D043586:Methylmalonyl-CoA Decarboxylase