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    Eur J Pediatr. 1978 Dec 1;129(4):231-8.

    3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

    Greter J, Hagberg B, Steen G, Söderhjelm U.

    Abstract

    Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.

    PMID:
    720359
    [PubMed - indexed for MEDLINE]

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