Article
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
Molecular genetics and metabolism - 1 Dec 2006
Di Rocco Maja, Caruso Ubaldo, Briem Egill, Rossi Andrea, Allegri Anna E M, Buzzi Davide, Tiranti Valeria
Abstract excerpt
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...
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