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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.

    Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V.

    Source

    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
    [PubMed - indexed for MEDLINE]

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