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• W2009332562 abstract "3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms, 3-methylglutaconic acid is not derived from leucine but is of unidentified origin, possibly derived from other metabolic pathways, such as mevalonate metabolism. We report five patients, all presenting a severe early-onset phenotype characterized by 3-methylglutaconic aciduria, hypertrophic cardiomyopathy, cataract, hypotonia/developmental delay, lactic acidosis, and normal 3-methylglutaconyl-CoA hydratase activity. This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria." @default.
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• W2009332562 date "2006-05-30" @default.
• W2009332562 modified "2023-10-18" @default.
• W2009332562 title "Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3‐methylglutaconic aciduria" @default.
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• W2009332562 doi "https://doi.org/10.1007/s10545-006-0279-y" @default.
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