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Mol Genet Metab. 2006 Dec;89(4):395-7. Epub 2006 Jul 7.

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

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1
II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy. majadirocco@ospedale-gaslini.ge.it

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.

PMID:
16828325
DOI:
10.1016/j.ymgme.2006.05.010
[Indexed for MEDLINE]
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