J Korean Pediatr Soc.  1999 Jun;42(6):901-907.

A Case of Propionic Acidemia

Affiliations
  • 1Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea.
  • 2Department of Pediatrics, College of Medicine, Hanlim University, ChunChon, Korea.

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.

Keyword

Propionic acidemia

MeSH Terms

Child
Chromatography, Gas
Dehydration
Diagnosis
Diethylpropion*
Humans
Hyperammonemia
Infant
Korea
Male
Mass Spectrometry
Metabolism
Methylmalonyl-CoA Decarboxylase
Propionic Acidemia*
Diethylpropion
Methylmalonyl-CoA Decarboxylase
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