[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)].
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.
D001344:Autopsy; D019735:Carbon-Carbon Ligases; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006943:Hyperglycemia / Q000209:etiology*; D006984:Hypertrophy; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology; D009123:Muscle Hypotonia / Q000150:complications; D011422:Propionates / Q000652:urine*; D011707:Pyloric Stenosis / Q000150:complications*
D011422:Propionates; D008025:Ligases; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing)
Propionacidämie mit hypertrophischer Pylorusstenose und Entgleisungen im Glukosestoffwechsel.