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Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia

✍ Scribed by Chaterine McKeon; Robert Z. Eanes; R.Ray Fall; Diane M. Tasset; Barry Wolf


Book ID
115823127
Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
542 KB
Volume
101
Category
Article
ISSN
0009-8981

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Deficiency of propionyl-CoA carboxylase (PCC) results in propionic acidemia, an autosomal recessive disorder characterized by ketoacidosis sufficiently severe to cause neonatal death. PCC is involved in the catabolism of branched-chain amino acids, odd-chain fatty acids, and cholesterol. The enzyme