3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 129 (4) , 231-238
- https://doi.org/10.1007/bf00441354
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.Keywords
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