Research Article

The Importance of Screening of Galactosemia in urine of Neonate

Abstract

Objectives: Galactosemia is metabolic inborn error occurred due to deficient activity in the enzyme incorporated in the metabolism of galactose sugar. Galactosaemia is a common cause of liver metabolic disease in period of childhood, it is important cause of newborn hyperbilirubinemia therefore the study designed to illustrate the Importance of Screening of Galactosemia in urine of Neonate. Materials and Methods: the study was done on the patients those attended to the Al-Rawan specialist laboratory in Najaf between January 2023 to June 2024. Forty tow patients were incorporated into our study. Tow milliliter of urine sample was taken from each patient to use in galactosemia rapid test in urine and tow milliliter of blood sample was taken from the same patient for the measurement of total serum bilirubin. Results: Forty-two neonatal patients divided according to the results of galactosemia rapid test in urine in to tow group positive galactosemia group 31(73.8%) and negative galactosemia group 11 (26.2%). The 31 positive galactosemia patients were involved into this study ; 15 were female and 16 were male. In comparison, there were 11 female and 0 male among negative galactosemia group. Also there was a high difference in the mean level of total serum bilirubin between positive galactosemia patients and negative galactosemia patients. The high rate of positive results of galactosemia recorded in age between 1day to 3month although there were no significant differences between age groups p-value 0.22. In this study the sensitivity of the test of galctosemia in urine was 93.75% and the specificity 80%. Conclusions: Galactosemia neonatal screening may protect infants from complications cause life-threatening if detected in early stages of life.

Keywords: Galactosemia in urine, hyperbilirubinemia, rapid test in urine.