METHOD FOR DETERMINING RISK OF HEREDITARY METABOLIC DISEASES (HMD) IN INFANTS Russian patent published in 2021 - IPC G01N33/66 G01N33/68 

FIELD: medicine.

SUBSTANCE: invention relates to medicine and concerns a method for determining the risk of the presence of hereditary metabolic diseases (hereinafter – HMD) in infants with the syndrome of hyperammoniemia. The level of ammonia in infants is determined; the levels of lactate, blood glucose, hemoglobin, number of erythrocytes, the average volume of erythrocytes, blood pH, and the level of deficit reason are measured. The risk of the presence of HMD is calculated according to the formula: Y_HMD=66,442+0,153×X_NH4 - 0,653×X_LACTATE+0,531×X_GLU - 0,06×X_HB - 1,161×X_RGB - 0,047×X_MCV+0,529×X_BE - 9,948×X_pH.

EFFECT: invention makes it possible to assign a patient with hyperammonemia syndrome to a group of high or low risk of HMD before the diagnosis is made by molecular genetic examination for the timely start of treatment.

1 cl, 2 ex