The 3-methylglutaconic acidurias: what’s new?
✍ Scribed by Saskia B. Wortmann; Leo A. Kluijtmans; Udo F. H. Engelke; Ron A. Wevers; Eva Morava
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 336 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be characterized at enzyme and DNA levels. The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-met
## Abstract A diagnosis of 3‐methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3‐methylglutaconic acid (3MGA), 3‐methylglutaric acid (3MG) and 3‐hydroxyisovaleric acid (3HIVA) was made in a 61‐year‐old female patient presenting with leukoencephalopathy slowly pr