title: Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome.
abstract: We report successful liver transplantation in a young adult with argininosuccinic aciduria but without cirrhosis. Plasma amino acid profile normalized and brain magnetic resonance spectroscopy indicated improved metabolism after transplantation. The general well-being of the patient and his quality of life improved. We suggest that orthotopic liver transplantation should be considered for patients with argininosuccinic aciduria even in the absence of cirrhosis, with the aim of correcting (at least in part) central nervous system metabolism, thereby preventing further neurological deterioration.
authors.affiliation: Department of Gastroenterology, Royal Children's Hospital Melbourne, Australia.
authors.forename: Tanya
authors.initials: T
authors.lastname: Newnham
authors.forename: Winita
authors.initials: W
authors.lastname: Hardikar
authors.forename: Katrina
authors.initials: K
authors.lastname: Allen
authors.forename: R Mark
authors.initials: RM
authors.lastname: Wellard
authors.forename: Charles
authors.initials: C
authors.lastname: Hamilton
authors.forename: Peter
authors.initials: P
authors.lastname: Angus
authors.forename: Robert
authors.initials: R
authors.lastname: Jones
authors.forename: Avihu
authors.initials: A
authors.lastname: Boneh
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism / Q000601:surgery*; D001120:Arginine / Q000008:administration & dosage; D001125:Argininosuccinic Acid / Q000652:urine*; D001479:Basal Ganglia / Q000378:metabolism; D001923:Brain Chemistry; D004305:Dose-Response Relationship, Drug; D005500:Follow-Up Studies; D006501:Hepatic Encephalopathy / Q000209:etiology* / Q000378:metabolism / Q000517:prevention & control; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009778:Occipital Lobe / Q000378:metabolism; D013997:Time Factors
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine