Article
Mass spectrometric analysis of metabolite excretion in five Japanese patients with the late-onset form of glutaric aciduria type II.
Biological mass spectrometry - 1 Aug 1991
Shimizu N, Yamaguchi S, Orii T, Previs S F, Rinaldo P
Abstract excerpt
The variability of clinical and biochemical features in five Japanese patients with the late-onset form of glutaric aciduria type II (GAII) was studied using mass spectrometric procedures. The age at onset ranged from 5 months to five years, presenting acute episodes such as lethargy, hypotonia,...
Topics
- Acids
- Amino Acid Metabolism, Inborn Errors
- Carnitine
- Child, Preschool
- Female
- Gas Chromatography-Mass Spectrometry
- Glutarates
- Glycine
- Humans
- Infant
- Japan
- Male
- Phenotype
- Spectrometry, Mass, Fast Atom Bombardment