METHOD FOR STEP-BY-STEP DIAGNOSTICS OF TYPE 1 HEREDITARY TYROSINEMIA IN CHILDREN Russian patent published in 2017 - IPC G01N33/49 G01N33/487 G01N33/50 G01N30/72 

FIELD: medicine.

SUBSTANCE: for children of the first 3 months of life who have a combination of a symptom complex consisting of fever of unknown origin, edema, jaundice and dyspeptic syndrome, and children aged 4 months and older - hepato- or hepatosplenomegaly and clinical manifestations of acute rickets, a blood test is performed to assess the hemoglobin level and the number of erythrocytes, the number of platelets, the level of ALT, ACT, bilirubin and its fractions, the level of alkaline phosphatase, calcium, phosphorus, AFP, coagulogram. In case of detected anemia, thrombocytopenia, elevated ALT, ACT, bilirubin, AFP and laboratory signs of acute rickets, a study is made of the level of tyrosine in blood by tandem mass spectrometry and a study of succinyl acetone in blood and urine. In case of an increased tyrosine level, as well as an increased succinylacetone level in the blood (above 2 mmol/l) and more than 2 mmol/l of creatinine in the urine, a genetic test is carried out in terms of FAH gene mutations.

EFFECT: use of the method allows to diagnose HT1 at the early stages with high accuracy.

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