[Acute intermittent porphyria at 4 months of age].
Acute intermittent porphyria was diagnosed in a child who presented with an acute abdomen and neurological signs of the age of four months. The diagnosis was confirmed by the absence of uroporphyrinogen synthetase in the erythrocytes. The rarity of the disorder at this age is emphasised.
D000006:Abdomen, Acute; D000208:Acute Disease; D000367:Age Factors; D000642:Ammonia-Lyases / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D009461:Neurologic Manifestations; D017118:Porphyria, Acute Intermittent; D011164:Porphyrias / Q000175:diagnosis; D012008:Recurrence
D000642:Ammonia-Lyases
Porphyrie aigue intermittente à l'age de quatre mois