- Case Report
- A Case of Propionic Acidemia
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Woo Seop Yeoum, Kwang Wook Lee, Byeong Ho Chae, Baek Keun Lim, Hong Jin Lee
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Clin Exp Pediatr. 1999;42(8):1159-1164. Published online August 15, 1999
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Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been... |
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