A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

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Ucar H. K., TÜMGÖR G., Kor D., KARDAŞ F., Mungan N. O.

BALKAN MEDICAL JOURNAL, vol.33, no.3, pp.370-372, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.5152/balkanmedj.2016.141074
  • Journal Name: BALKAN MEDICAL JOURNAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.370-372
  • Keywords: Neurologic crisis, pancreatitis, tyrosinemia type I
  • Erciyes University Affiliated: Yes

Abstract

Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications.