All issues > Volume 42(8); 1999

Case Report

J Korean Pediatr Soc. 1999;42(8):1159-1164. Published online August 15, 1999.

A Case of Propionic Acidemia

Woo Seop WS Yeoum¹, Kwang Wook KW Lee¹, Byeong Ho BH Chae¹, Baek Keun BK Lim¹, Hong Jin HJ Lee²

¹Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea
²Department of Pediatrics, College of Medicine, Hanlim University, Chunchon, Korea

Correspondence Woo Seop WS Yeoum ,Email: 1

Abstract

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 reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.

Keywords :Propionic acidemia