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[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's
Abstract:
A newborn is presented with hyperexcitability, drowsiness and later-on with frequent vomiting and muscular hypotonia. Examination of the urine by gas chromatography-mass spectrometry lead to the diagnosis of propionic acidemia which was confirmed enzymatically in fibroblasts. Two unusual features were encountered in this case: There were severe bouts of hyperglycemia with blood glucose values up to 396 and 747 mg/100 ml; furthermore x-ray studies and autopsy revealed a hypertrophic pyloric stenosis.