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Functional characterization of PCCA mutations causing propionic acidemia

✍ Scribed by Sonia Clavero; Mª Angeles Martı́nez; Belén Pérez; Celia Pérez-Cerdá; Magdalena Ugarte; Lourdes R Desviat


Book ID
117617936
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
358 KB
Volume
1588
Category
Article
ISSN
0925-4439

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Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl-CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain amino acids, odd-numbered chain length fatty acids, cholesterol, and other metabolites. The enzyme is composed