A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Maja Di Rocco, Ubaldo Caruso, Egill Briem, Andrea Rossi, Anna E M Allegri, Davide Buzzi, Valeria Tiranti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)395-397
Number of pages3
JournalMolecular Genetics and Metabolism
Volume89
Issue number4
DOIs
Publication statusPublished - Dec 2006

Keywords

  • Articular hyperlaxity
  • Ethylmalonic encephalopathy
  • Vascular fragility

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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