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


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

BALKAN MEDICAL JOURNAL, cilt.33, ss.370-372, 2016

  • Cilt numarası: 33 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.5152/balkanmedj.2016.141074
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Sayfa Sayısı: ss.370-372

Özet

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.