𝔖 Bobbio Scriptorium
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3-Methylglutaconic aciduria in “optic atrophy plus”

✍ Scribed by Dr. Hanan Costeff; Orly Elpeleg; Naomi Apter; Priscille Divry; Natan Gadoth


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
226 KB
Volume
33
Category
Article
ISSN
0364-5134

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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