Fj. Vanspronsen et al., TYROSINEMIA TYPE-I - CONSIDERATIONS OF TREATMENT STRATEGY AND EXPERIENCES WITH RISK ASSESSMENT, DIET AND TRANSPLANTATION, Journal of inherited metabolic disease, 18(2), 1995, pp. 111-114
The rapid development of new modes of treatment including organ transp
lantation, enzyme inhibition, enzyme replacement, liver cell transplan
tation and gene therapy necessitates knowledge about the results of al
l modes of treatment to allow decisions on treatment strategies. In he
reditary tyrosinaemia type I, apart from the dietary treatment, both o
rthotopic liver transplantation (OLT) and treatment with tro-4-trifluo
romethylbenzoyl)-1,3-cyclohexanedione (NTBC) have become available (Li
ndstedt et al 1992). However, this disease seems clinically very heter
ogeneous. Therefore, we should first attempt to categorize different c
linical forms since treatment strategies may be quite different. Based
on clinical heterogeneity, Halvorsen (1990) divided patients with tyr
osinaemia into three forms - acute, subacute and chronic - but could n
ot report the exact outcome on dietary treatment with possible consequ
ences for treatment strategies. We have therefore investigated the cli
nical course on dietary treatment of our own patients and conducted an
international survey on the clinical course of patients managed by di
etary treatment and/or OLT, of which the results in part are described
elsewhere (van Spronsen et al 1994). The results may enable us to com
pare the outcome on NTBC and to decide on treatment strategy in tyrosi
naemia type I patients.