title: Anaesthetic management of a young patient with homocystinuria.
abstract: Homocystinuria is a rare autosomal recessive genetic disease. It is caused by a deficiency in cystathionine-b-synthase leading to a defect in methionine metabolism. High levels of plasma homocysteine are associated with vascular injury via mechanisms of oxidative damage, vascular smooth muscle proliferation, promotion of platelet activation and aggregation,and disruption of normal procoagulant-anticoagulant balance favouring thrombosis. This is a case of 8 years old boy, a known case of homocystinuria, who was scheduled for bilateral lensectomy and intraocular lens placement. The major anaesthetic considerations include the development of thromboembolism, need to avoid nitrous oxide in balanced anaesthesia regimen and hypoglycaemia.
authors.affiliation: Department of Anaesthesia, The Aga Khan University Hospital, Karachi. asghar.ashraf@aku.edu
authors.forename: Ali
authors.initials: A
authors.lastname: Asghar
authors.forename: Faiza Mazhar
authors.initials: FM
authors.lastname: Ali
mesh_terms: D000768:Anesthesia, General / Q000379:methods*; D000771:Anesthesia, Intravenous; D018686:Anesthetics, Intravenous / Q000008:administration & dosage; D001786:Blood Glucose / Q000032:analysis; D002648:Child; D004479:Ectopia Lentis / Q000601:surgery*; D006710:Homocysteine / Q000097:blood*; D006712:Homocystinuria / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007552:Isotonic Solutions / Q000008:administration & dosage; D019654:Lens Implantation, Intraocular; D008297:Male; D019990:Perioperative Care; D015742:Propofol / Q000008:administration & dosage; D016896:Treatment Outcome
chemical_list: D018686:Anesthetics, Intravenous; D001786:Blood Glucose; D007552:Isotonic Solutions; D006710:Homocysteine; D015742:Propofol