A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

  • Mol Genet Metab. 2006 Dec;89(4):395-7. doi: 10.1016/j.ymgme.2006.05.010.
Maja Di Rocco  1 ,  Ubaldo Caruso ,  Egill Briem ,  Andrea Rossi ,  Anna E M Allegri ,  Davide Buzzi ,  Valeria Tiranti
Affiliations
  • 1. II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy. [email protected]
PMID: 16828325 DOI: 10.1016/j.ymgme.2006.05.010
Abstract

A child is reported presenting with a clinical picture suggestive of genetic connective tissue disorders (vascular fragility, articular hyperlaxity, delayed motor development, and normal cognitive development), an absence of pathological ethylmalonic acid excretion during inter-critical phases and a homozygous R163W mutation in the ETHE1 gene. This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this Metabolic Disease.