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Pediatrics Conference 2018
Journal of Pediatric Care
ISSN: 2471-805X
Page 19
March 26-27, 2018
Edinburgh, Scotland
2
nd
Edition of International Congress on
Pediatrics
Background:
Hereditary tyrosinemia type I (HTI) is a metabolic
disease caused by deficiency of fumarylacetoacetate hydrolase
enzyme.
Objectives:
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.
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 (Prothrombin time) was achieved
in average of 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 and 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
Biography
Hanna Alobaidy has completed her MB BCh from Faculty of Medicine, Al-
exandria University, Egypt in 1980 and Postdoctoral studies in Pediatrics
from Karolinska Institute Stockholm Sweden, 1990. She is a Consultant of
clinical pediatrics and inborn errors of metabolism. She is currently serving
as Consultant Metabolist in outpatient clinic Alkhadra Hospital, Tripoli, Lib-
ya. She has committed to a career in Academic Medicine and has over 20
years of experience of undergraduate and postgraduate medical education
in University of Tripoli Medical College. She has published papers in national
and international peer-reviewed medical journals with over 25 citations. Her
top clinical researches are: The 1st study and reference report about the
“Pattern of metabolic disorders in Libya, long termexperience in tyrosinemia
type I with NTBC (17years) and Niemann-Pick C disease follow up”.
hanna_alobaidy@hotmail.comExperience of a single center in NTBC use in management of
hereditary tyrosinemia type I in Libya
Hanna Alobaidy
El khadra Hospital, Libya
Hanna Alobaidy, J Pediatr Care, Volume 4
DOI: 10.21767/2471-805X-C1-005