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Updated: Aug 18, 2026
Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia
Published on: September 18, 2013
Experience with NTBC therapy in hereditary tyrosinaemia type I: an alternative to liver transplantation
1Division of Genetic and Metabolic Diseases, Sultan Qaboos University Hospital, Muscat, Oman. joshisnj@yahoo.com
Insights
NTBC therapy offers a life-saving treatment for infants with type I tyrosinaemia, effectively reversing disease manifestations. This approach, combined with dietary changes, shows significant clinical improvement and avoids serious complications like liver cancer.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Type I tyrosinaemia (hepato-renal) is a genetic disorder presenting in infancy.
- Clinical manifestations include progressive hepatosplenomegaly, liver cirrhosis, and abdominal distension.
- Early diagnosis is crucial, often prompted by affected siblings or newborn screening.
Purpose of the Study:
- To present clinical data on five infants with type I tyrosinaemia treated with NTBC.
- To evaluate the efficacy and safety of NTBC therapy in this patient cohort.
- To compare NTBC therapy with alternative treatments like liver transplantation.
Main Methods:
- Retrospective review of clinical data from five infants with type I tyrosinaemia.
- Treatment involved NTBC (nitisinone) therapy combined with a phenylalanine- and tyrosine-restricted diet.
- Clinical outcomes, including disease progression, response to treatment, and adverse events, were monitored.
Main Results:
- All five infants received NTBC therapy between 6 and 30 months of age.
- Four out of five infants showed remarkable clinical improvement within 2-6 months.
- One infant died from liver failure and sepsis; no patients developed hepatic carcinoma.
- NTBC was well-tolerated with no reported side-effects.
Conclusions:
- NTBC therapy, alongside dietary management, is highly effective in reversing clinical manifestations of type I tyrosinaemia.
- NTBC represents a life-saving alternative to liver transplantation, despite its cost.
- Long-term monitoring indicates a lack of hepatic carcinoma development in treated patients.
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.
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