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Med J Tabriz Uni Med Sciences Health Services. 2005;27(1): 73-76.
  Abstract View: 323
  PDF Download: 180

Pediatrics

Research

A case Report of Hereditary Tyrosinemia Type 1

ASGHARI KALEIBAR N, RAFEEY M, JAFARI ROUHI A.H
*Corresponding Author:

Abstract

Thyrosinemia type 1 is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetate activity. Treatment with 2-(2-nitr-4-trifluro-methylbenzoyl)-1,3-cyclohexanedion (NTBC) an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, has successfully been applied for the last few years. In this paper one patient with the diagnosis of tyrosinemia type1 has been treated with NTBC and restricted diet. Within five years follow up, patient’s signs and symptoms alleviated and no evidence of hepatocellular carcinoma developed and the patient’s growth and development were normal. This drug was as effective as showed in similar studies. The needed amount of NTBC for this patient to live normally is provided through a Franch company with difficulties. The patient’s life depends on continuous availablity of this drug.
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Submitted: 09 Jul 2013
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