title: Variant acute intermittent porphyria in a child.
abstract: A child who was grossly malnourished and who showed increased excretion of porphyrin and porphyrin precursor had normal activity of erythrocyte porphobilinogen deaminase (EC 4.3.1.8) and leukocyte protoporphyrinogen oxidase (EC 1.3.3.4). Clinical symptoms, coincident with the excretion of rose-colored urine, were consistent with the diagnosis of an acute porphyria. The disease resolved spontaneously after the withdrawal of carbamazepine and sodium valproate and the commencement of parenteral nutrition with subsequent carbohydrate loading. In addition to normal concentrations of enzyme activities, the patient is unusual in presenting before puberty and in having no family history of porphyria.
authors.affiliation: Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
authors.forename: N R
authors.initials: NR
authors.lastname: Badcock
authors.forename: G D
authors.initials: GD
authors.lastname: Zoanetti
authors.forename: D A
authors.initials: DA
authors.lastname: O'Reilly
authors.forename: E F
authors.initials: EF
authors.lastname: Robertson
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D004912:Erythrocytes / Q000032:analysis; D005243:Feces / Q000032:analysis; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D008107:Liver Diseases / Q000378:metabolism*; D008297:Male; D011164:Porphyrias / Q000378:metabolism*; D011166:Porphyrins / Q000032:analysis* / Q000097:blood / Q000652:urine
chemical_list: D011166:Porphyrins