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Бюллетень медицинских Интернет-конференций (ISSN 2224-6150) 2015. Том 5. № 5
ID: 2015-05-376-T-4643 Тезис
Doronina A., Nadrah Mossa, Korovina O., Ovsyannikov D.
Tyrosinemia type 1: a case report
Peoples' Friendship University of Russia
Background. Tyrosinemia type 1(TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), which catabolizes fumyralacetoacetate into fumarate and acetoacetate [1]. The pathophysiology of the disease is explained by the subsequent accumulation of tyrosine and its metabolite succinylacetone in the liver, kidney and peripheral nerves, leading to dysfunction of these organs [1,2]. TT1 usually presents in early infancy with failure to thrive, vomiting, jaundice, hepatomegaly, elevated liver enzymes and bleeding tendency [3].
Case presentation. We report a case of a 2-month-old girl with tyrosinemia type 1 presented with dyspnea, fever, diarrea and hepatosplenomegalia. Examination revealed a sick-looking infant with signs of severe jaundice, hepatosplenomegaly, elevated liver enzymes and ProTime INR test. X-ray findings revealed a left-side pneumonia, echocardiographic findinds: separation of pericardium, ultrasound findings showed a severe liver fibrosis, hepatosplenomegalia. Tandem mass-spectrometry (TMS) revealed an increase of methionine (152,4 mikromoll), tyrosine (626,7mikromoll), valin (379,9 mikromoll), leucinisoleucine (693,2 mikromoll). Chromatography indicated a singnificant increase of succinylacetone (195 mMM). DNA analysis identified a homozygous mutation.
Conclusions. Despite the intensive therapy of Sol. Albumini, Verospironi, antibiotics, O2, Pulmikort, the exitus lethalis was diagnosed. This report demonstrates the value of screening for the early diagnosis of TT1 to prevent associated mortality.
References
1. Mitchell GA, Grompe M, Lambert M, Tanguay RM: In Hypertyrosinemia : the metabolic and molecular bases of inherited disease. 5th edition. Edited by Scriver CR, Beaudet A, Sly WS, Valle D. New York: McGraw Hill; 2001:1777-1806.
2. Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY: Tandem mass spectrometric assay of succinylacetone in urine for diagnosis of hepatorenaltyrosinemia. Anal Biochem 2005, 339:310-317.
3. Rashad M, Nassar C: Tyrosinemia type 1: a case report. Sudan J Pediatr 2011, 11(1):64-67.
Key words: tyrosinemia, hepatosplenomegalia, succinylacetone
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