Propionic acidemia: unusual course with late onset and fatal outcome.
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.
Lücke
Thomas
T
Department of Paediatrics, Hannover Medical School, Hannover, Germany.
Pérez-Cerdá
Celia
C
Baumgartner
Matthias
M
Fowler
Brian
B
Sander
Stefanie
S
Sasse
Michael
M
Scholl
Sabine
S
Ugarte
Magdalena
M
Das
Anibh Martin
AM
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
D011422:Propionates; D043586:Methylmalonyl-CoA Decarboxylase