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A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

Molecular genetics and metabolism (2006-07-11)
Maja Di Rocco, Ubaldo Caruso, Egill Briem, Andrea Rossi, Anna E M Allegri, Davide Buzzi, Valeria Tiranti
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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Ethylmalonic acid, 97%