A Case of Propionic Acidemia.
- Author:
Woo Seop YEOUM
1
;
Kwang Wook LEE
;
Byeong Ho CHAE
;
Baek Keun LIM
;
Hong Jin LEE
Author Information
1. Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea.
- Publication Type:Case Report
- Keywords:
Propionic acidemia
- MeSH:
Child;
Chromatography, Gas;
Dehydration;
Diagnosis;
Diethylpropion*;
Humans;
Hyperammonemia;
Infant;
Korea;
Male;
Mass Spectrometry;
Metabolism;
Methylmalonyl-CoA Decarboxylase;
Propionic Acidemia*
- From:Journal of the Korean Pediatric Society
1999;42(6):901-907
- CountryRepublic of Korea
- Language:Korean
-
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.
