[Propionic acidemia: one case report].
A case of propionic acidemia is reported. The main features of this patient were recurrent vomiting, ketosis and occasional episodes of seizure. Serum concentrations of propionic acid and glycine were within the normal range. Blood ammonia was slightly elevated. Characteristic organic acids were present in the patient's urine. they were: 3-hydroxypropionic acid, propionylglycine, methyl-citric acid, tiglyglycine, 3-hydroxyvaleric acid, etc. The etiology, pathogenesis, clinical features, diagnosis, and treatment of propionic acidemia are briefly discussed.
Yuan
L
L
Institute of Basic Medical Sciences, Beijing.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D011422:Propionates / Q000097:blood* / Q000378:metabolism
D011422:Propionates