Combined liver-kidney transplantation in methylmalonic acidemia.
A 13-year-old boy with non-B12-responsive methylmalonic acidemia (MMA) had chronic renal failure. Hemodialysis led to symptomatic and biochemical improvement. He subsequently received a combined liver-kidney transplant. After 16 months of follow-up he has a normal lifestyle and a marked reduction in plasma and urine methylmalonate.
van 't Hoff
W G
WG
Renal Unit, Great Ormond Street Hospital for Children, London, U.K.
Dixon
M
M
Taylor
J
J
Mistry
P
P
Rolles
K
K
Rees
L
L
Leonard
J V
JV
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000601:surgery*; D005808:Genes, Recessive; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery* / Q000628:therapy*; D016030:Kidney Transplantation; D016031:Liver Transplantation; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency; D006435:Renal Dialysis
D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase