Difficulties in diagnostics of urea synthesis cycle disturbance

Introduction. Hereditary metabolic diseases include a large group of caused by genetic mutations with high potential risk transmitting this disorder to future offspring. Manifesting at any age and accompanied recurrent progressive clinical symptoms, some these become incompatible life, while most lead gross violations the normal physiological process child development. The paper presents case hereditary urea synthesis deficiency ornithine transcarbamylase mitochondrial matrix in liver (hyperammonemia type 2) as result mutation OTC gene (MIM 300461). disease recessive, linked X-chromosome is associated mortality due accumulation toxic concentrations ammonia. Materials methods. boy E., born 2015. Introduction protein-based complimentary foods increase its portion volume decrease appetite, regurgitation, nausea, vomiting, flatulence, dyspepsia appear, sharp weakness progresses. There significant blood concentration intracellular enzymes. Physical development slowed poor weight gain, neuropsychiatric lags significantly. Repeatedly examined hospital place residence. Results obtained. A total 47 genes causing predominant damage were studied mass parallel sequencing. Substitution c.523G>A (p.Asn175Asp) hemizygous state was detected. Clinical diagnosis established: cycle metabolism disorder, hyperammonemia, deficiency, E 72.2. Dietary recommendations given. Carbaglu, Recordati, France rate 100 mg/kg/24 h prescribed on vital signs. Against background therapy dietary condition had pronounced positive trend. Conclusions. Since true incidence pathology Russia has not been established (many cases disorders remain undiagnosed), presented will allow clinicians, using modern possibilities structural functional analysis human genome, make timely prescribe adequate therapy, thereby only prolonging life young patient but also significantly improving quality.