Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
Methylmalonic acidemia unresponsive to cobalamin is often fatal in infancy. Patients have been considered candidates for hepatic transplantation and experience has been that the procedure eliminates the life-threatening episodes of ketoacidosis that characterize this disease.


CONCLUSIONS
experience with a 24-year-old patient treated with hepatic transplantation indicates that this procedure does not prevent progressive renal failure and neurologic dysfunction.
Nyhan
William L
WL
UCSD Pediatrics (0830), 9500 Gilman Drive, La Jolla, CA 92093-0830, USA. wnyhan@ucsd.edu
Gargus
J Jay
JJ
Boyle
Karen
K
Selby
Rick
R
Koch
Richard
R
D058186:Acute Kidney Injury / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D000328:Adult; D018450:Disease Progression; D005260:Female; D006801:Humans; D016031:Liver Transplantation; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000601:surgery*; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000378:metabolism; D009422:Nervous System Diseases / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D011379:Prognosis; D011788:Quality of Life; D006435:Renal Dialysis / Q000379:methods; D018570:Risk Assessment; D016896:Treatment Outcome
D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase