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

Creative Commons License

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

BALKAN MEDICAL JOURNAL, cilt.33, ss.370-372, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.5152/balkanmedj.2016.141074
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Sayfa Sayıları: 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.