[Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I].
BACKGROUND
Hereditary tyrosinemia type I is a disease with a severe prognosis. Main causes of death are acute liver failure, neurologic crises and hepatocarcinoma. NTBC, which acts as an inhibitor of the 4-hydroxyphenylpyruvate dioxygenase, prevents the formation of toxic metabolites involved in hepatic, renal and neurologic lesions.


METHODS
Results of NTBC therapy used in three infants with type I tyrosinemia who presented with acute liver failure are reported. The diagnosis relied on the finding of high plasmatic levels of tyrosine and methionine, and abnormal urinary excretion of succinyl acetone and delta aminolevulinic acid. Treatment with NTBC was initiated within 2 to 8 days from onset of symptoms. Signs of liver failure resolved after 3 weeks therapy. After 12 to 39 months of follow-up, outcome remains favorable.


CONCLUSIONS
The results reported here highlight the efficiency of NTBC in type I tyrosinemia with early acute onset. However, the long term outcome needs to be determined with regards to prevention of hepatocarcinoma and toxicity of the drug.
Barkaoui
E
E
Service d'hépatologie pédiatrique, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.
Debray
D
D
Habès
D
D
Ogier
H
H
Bernard
O
O
D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000037:antagonists & inhibitors*; D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy; D000622:Aminolevulinic Acid / Q000652:urine; D003512:Cyclohexanones / Q000627:therapeutic use*; D004791:Enzyme Inhibitors / Q000627:therapeutic use* / Q000652:urine; D005260:Female; D005500:Follow-Up Studies; D006537:Heptanoates / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017093:Liver Failure / Q000188:drug therapy* / Q000209:etiology; D008297:Male; D008715:Methionine / Q000097:blood; D009579:Nitrobenzoates / Q000627:therapeutic use*; D000623:Porphobilinogen Synthase / Q000037:antagonists & inhibitors; D016896:Treatment Outcome; D014443:Tyrosine / Q000097:blood*
D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D006537:Heptanoates; D009579:Nitrobenzoates; D014443:Tyrosine; C020804:succinylacetone; D000622:Aminolevulinic Acid; D008715:Methionine; D015111:4-Hydroxyphenylpyruvate Dioxygenase; D000623:Porphobilinogen Synthase; C077073:nitisinone
Evolution favorable sous traitement par NTBC de l'insuffisance hépatique aiguë révélatrice de la tyrosinémie héréditaire de type I.