Paper Information

Journal:   INTERNATIONAL JOURNAL OF PEDIATRICS   SEPTEMBER 2014 , Volume 2 , Number 3-3 (SUPP 5); Page(s) 63 To 66.
 
Paper: 

TYPE 1 TYROSINEMIA WITH HYPOPHOSPHATEMIC RICKETS: A CASE REPORT

 
 
Author(s):  ESHRAGHI PEYMAN, FAROUGHI FOAD*, ALIZADEH MOHAMMAD KARIM
 
* STUDENT RESEARCH COMMITTEE, FACULTY OF MEDICINE, MASHHAD UNIVERSITY OF MEDICAL SCIENCES, MASHHAD, IRAN
 
Abstract: 

Introduction: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase (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.
Case Presentation: Our case was a girl in mid childhood 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 type1 and after treatment with (2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC) significant remission, was achieved.

 
Keyword(s): HYPOPHOSPHATEMIC RICKETS, TYPE1 TYROSINEMIA
 
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