Propionic acidemia: unusual course with late onset and fatal outcome
2004; Elsevier BV; Volume: 53; Issue: 6 Linguagem: Inglês
10.1016/j.metabol.2003.12.025
ISSN1532-8600
AutoresThomas Lücke, Celia Pérez‐Cerdá, Matthias R. Baumgartner, Brian Fowler, Stefanie Sander, Michael Sasse, Sabine Scholl, Magdalena Ugarte, Anibh M. Das,
Tópico(s)Mitochondrial Function and Pathology
ResumoAbstract 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.
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