Molecular analysis of PCCB gene in Korean patients with propionic acidemia
✍ Scribed by Soon Nam Kim; Kyung Hwa Ryu; Eun Ha Lee; Jong Soo Kim; Si Houn Hahn
- Book ID
- 117735423
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 441 KB
- Volume
- 77
- Category
- Article
- ISSN
- 1096-7192
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📜 SIMILAR VOLUMES
Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme located in the mitochondrial matrix. Mutations in the PCCA and PCCB genes, which encode the α α and β β subunits of this heteropolymer, result in propionic acidemia (PA). We report the molecular analysis of β β-deficient patients from Spai
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