Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome.
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.
Newnham
Tanya
T
Department of Gastroenterology, Royal Children's Hospital Melbourne, Australia.
Hardikar
Winita
W
Allen
Katrina
K
Wellard
R Mark
RM
Hamilton
Charles
C
Angus
Peter
P
Jones
Robert
R
Boneh
Avihu
A
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
D001125:Argininosuccinic Acid; D001120:Arginine