3-methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism
โ Scribed by J. A. J. M. Bakkeren; R. C. A. Sengers; W. Ruitenbeek; J. M. F. Trijbels; L. Thun-Hohenstein; R. H. Largo
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 139 KB
- Volume
- 151
- Category
- Article
- ISSN
- 0340-6997
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## Abstract A diagnosis of 3โmethylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3โmethylglutaconic acid (3MGA), 3โmethylglutaric acid (3MG) and 3โhydroxyisovaleric acid (3HIVA) was made in a 61โyearโold female patient presenting with leukoencephalopathy slowly pr