Neurological crisis in hereditary tyrosinaemia and complete reversal after liver transplantation.
A 19 month old Indian girl with tyrosinaemia developed a severe generalised neuropathy involving both phrenic nerves. Treatment with haemarginate failed to improve her condition. After liver transplantation the raised concentrations of the neurotoxin delta amino-laevulinic acid returned to normal and gradual but complete neurological recovery occurred over a period of 13 months.
Noble-Jamieson
G
G
Department of Paediatrics, Addenbrooke's NHS Trust, Cambridge.
Jamieson
N
N
Clayton
P
P
Bailey
S
S
Ryalls
M
M
Barnes
N D
ND
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000628:therapy; D010791:Phrenic Nerve; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine