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Molecular genetics and metabolism

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


PMID 16828325

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.

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102687
Ethylmalonic acid, 97%
C5H8O4