title: Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria.
abstract: We report a case history of the anesthetic management of a child with a severe form of acute intermittent porphyria (AIP). AIP is an autosomal dominant condition with incomplete penetrance, caused by deficiency of porphobilinogen deaminase, an enzyme found in the synthetic pathway for heme. Anesthesia and surgery may present many precipitants for a potentially fatal acute porphyric attack. These include fasting, dehydration, stress, infection and drugs. Here, we describe the safe use of sevoflurane in the maintenance of anesthesia. Its relative insolubility and low metabolism suggest that sevoflurane may be a reasonable agent for anesthesia in the porphyric patient.
authors.affiliation: Department of Anaesthesia, Sheffield Children's Hospital, Western Bank, Sheffield, UK. lp.sheppard@btinternet.com
authors.forename: Lorcan
authors.initials: L
authors.lastname: Sheppard
authors.forename: Teresa
authors.initials: T
authors.lastname: Dorman
mesh_terms: D000769:Anesthesia, Inhalation; D018685:Anesthetics, Inhalation; D002648:Child; D006720:Homozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D008738:Methyl Ethers; D016343:Monitoring, Intraoperative; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000235:genetics; D011166:Porphyrins / Q000652:urine; D000077149:Sevoflurane
chemical_list: D018685:Anesthetics, Inhalation; D008738:Methyl Ethers; D011166:Porphyrins; D000077149:Sevoflurane; D011163:Hydroxymethylbilane Synthase