Back to Search
Start Over
[Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]
- Source :
- Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 6(5)
- Publication Year :
- 1999
-
Abstract
- 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.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.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.
- Subjects :
- Male
Cyclohexanones
Infant, Newborn
Infant
Porphobilinogen Synthase
Aminolevulinic Acid
4-Hydroxyphenylpyruvate Dioxygenase
Heptanoates
Methionine
Treatment Outcome
Nitrobenzoates
Acute Disease
Humans
Tyrosine
Female
Enzyme Inhibitors
Amino Acid Metabolism, Inborn Errors
Liver Failure
Follow-Up Studies
Subjects
Details
- Language :
- French
- ISSN :
- 0929693X
- Volume :
- 6
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
- Accession number :
- edsair.pmid..........1750853ebf535e94fcefa7bd7113efab