Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya.
BACKGROUND
Hereditary Tyrosinemia type I (HTI) is a metabolic disease caused by deficiency of fumarylacetoacetate hydrolase enzyme.


OBJECTIVE
This study reports beside its clinical and biochemical presentation, the outcome of NTBC [2- (2-nitro-4-trifloro-methylbenzoyl)-1, 3-cyclohexanedion] treatment of the disease and evaluates its biochemical markers in 16 pediatric Libyan patients.


METHODS
The diagnosis was based on presence of high tyrosine levels in blood and succinylacetone in urine.


RESULTS
The consanguinity rate was 81.2%, the median age at onset, at diagnosis and at starting treatment were 4.5, 8, and 9.5 months respectively. At presentation hepatomegaly, jaundice, rickets and high gamma glutamyl transferase (GGT) were observed in 87.5% of patients. All patients had extremely high alpha fetoprotein (AFP) and high alkaline phosphatase (ALP) levels. Fifteen patients were treated with NTBC, normalization of PT (Prothrombine time) was achieved in average in 14 days. The other biochemical parameters of liver function (transaminases, GGT, ALP, bilirubin and albumin) took longer to improve and several months to be normalized. Survival rate with NTBC was 86.6%. Patients who started treatment in a median of 3 months post onset observed a fast drop of AFP in 90.6% of patients (P = 0.003). Abnormal liver function and rickets were the common presentations, GGT was an early cholestatic sensitive test. ALP was constantly high even in asymptomatic patients.


CONCLUSIONS
In HT1 a faster dropping of AFP is a marker of good prognosis.
Department of Pediatrics, Faculty of Medicine, Elkhadra Hospital, Tripoli University, Tripoli, Libya.
Hanna
H
Alobaidy
Pasteur Institute, Children's Hospital, Tunis, Tunisia.
Emna
E
Barkaoui
Alpha Fetoprotein; Hereditary Tyrosinemia Type I; Libya; NTBC