Experience with NTBC therapy in hereditary tyrosinaemia type I: an alternative to liver transplantation.

ABSTRACT

We present the clinical data of five infants with type I (hepato-renal) tyrosinaemia on NTBC therapy. All presented initially at the local hospital in the 1st year of life with progressive abdominal distension owing to hepato-splenomegaly and with radiological evidence of liver cirrhosis, except for one child who was diagnosed during screening because of an affected sibling. Age at commencement of NTBC therapy ranged from 6 to 30 months. All infants showed remarkable improvement within 2-6 months of starting NTBC treatment, except one who died 2 months after commencement of therapy from uncontrolled liver failure, severe coagulopathy and Streptococcus pneumoniae septicaemia. NTBC treatment along with a phenylalanine- and tyrosine-restricted diet has effectively reversed most clinical manifestations of this disease. To date, none of our patients has developed hepatic carcinoma and NTBC was well tolerated without side-effects. NTBC is costly but life-saving and is an obvious alternative to more hazardous liver transplantation.