Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report

Eshraghi, Peyman and Faroughi, Foad and Alizadeh, Mohammad Karim (2014) Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report. International Journal of Pediatrics, 2 (3.3). pp. 63-66.

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Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding tendency. In 1992, a new drug orfadin (NTBC, Nitisinone) which is a potent inhibitor of 4 hydroxy phenyl pyrovate dioxygenase has revolutionized the treatment of tyrosinemia type 1 and is now the mainstry of therapy. Case presentation: Our case was a girl in midchidhood period with profound rickets and slowly progressing liver disease who presented with difficulty walking and weakness of muscles. She had an elevated serum tyrosine and urinary succinylacetone, which confirmed the diagnosis of tyrosinemia type 1 and after treatment with NTBC significant remission, was achieved.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 29 Sep 2017 14:51
Last Modified: 29 Sep 2017 14:51
URI: http://eprints.mums.ac.ir/id/eprint/6801

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