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.
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Greter, J., Hagberg, B., Steen, G. et al. 3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy. Eur J Pediatr 129, 231–238 (1978). https://doi.org/10.1007/BF00441354
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DOI: https://doi.org/10.1007/BF00441354