تحري اضطراب الغالاكتوزيميا لدى عدد من المرضى المحتمل إصابتهم في مستشفى الأطفال بدمشق

Abstract EN

Galactosemia denotes the elevated level of galactose in blood and is an inherited rare disease.

This disorder results in a faulty enzyme in the metabolic pathway of galactose, depending on the severity and type of enzyme deficiency, symptoms appear variously.

The early diagnosis and treatment with elimination of galactose from diet improves the prognosis of galactosima.

But unfortunately late diagnosis makes some symptoms irreversible such as hepatic dysfunction, septicemia, and death may occur.

The aim of this study is to give an approximate profile of galactosima frequency in Syrian society, in order to emphasize on the necessity of applying a mandatory newborn screening program for early diagnosis of metabolic disorders.

The study has investigated galactosemia disorder among a cohort of patients whom were suspected to be diagnosed with it, in the children's hospital in Damascus, between 1-10-2012 and 1-12-2013, by assaying total galactose in whole blood samples, by Flouro Metery Victor Wallc 14200 Multiple Counter.

There were two confirmed cases of galactosemia among 46 suspected galactosemia patients within the mentioned period.

According to the result of the study, improvement was shown on patients with confirmed diagnosis, when were discharged from hospital, by eliminating galactose from diet.

This shows that early detection leads to improvement of child's life, which emphasizes the importance of applying mandatory newborn screening program for early diagnosis of metabolic disorders