Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency.
The clinical and biochemical outcome of a liver transplantation in a seven-year-old boy with acute porphyria due to aminolaevulinate dehydratase deficiency is described. Before transplantation standard liver function tests were normal and the rationale for transplantation was that the new liver would reduce the metabolic disturbance and thus avert the porphyric symptoms. During the year after the transplantation, the functioning of the new liver has been excellent. Basal excretion of porphyrin and porphyrin precursors has remained unchanged but, with the new liver transplant the patient has been able to withstand several porphyrinogenic challenges without increasing the excretion. Episodes of neurological and respiratory crises may have been due to persistent porphyric vulnerability. Alternatively, two early attacks may have been caused by neurotoxic effects of cyclosporin in combination with the existing damage to nervous tissue.
Thunell
S
S
Department of Clinical Chemistry, St. Göran's Hospital, Stockholm, Sweden.
Henrichson
A
A
Floderus
Y
Y
Groth
C G
CG
Eriksson
B G
BG
Barkholt
L
L
Nemeth
A
A
Strandvik
B
B
Eleborg
L
L
Holmberg
L
L
D000208:Acute Disease; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005243:Feces / Q000737:chemistry; D006801:Humans; D008099:Liver / Q000502:physiology; D016031:Liver Transplantation; D008297:Male; D000623:Porphobilinogen Synthase / Q000172:deficiency*; D017094:Porphyrias, Hepatic / Q000201:enzymology / Q000378:metabolism / Q000601:surgery*; D011166:Porphyrins / Q000097:blood / Q000652:urine
D011166:Porphyrins; D000623:Porphobilinogen Synthase