تحري اضطرابات استقلاب الأحماض العضوية لدى عدد من المرضى المحتمل إصابتهم باضطرابات الاستقلاب الوسيط في مستشفى الأطفال الجامعي بدمشق

الملخص EN

Organic acid disorders (OA) are a group of metabolic inherited disorders, which are classified as intermediary metabolism disorders, and characterized by the accumulation of organic acids in the body fluids and tissues.

The rareness of these disorders and the difficult diagnosis, due to their unspecific symptoms, lead to delayed diagnosis and treatment, and consequently the occurrence of the irreversible symptoms and even death.

The study aimed to shed light on these disorders and their frequency in Children's University Hospital in Damascus, in order to emphasize the necessity of applying a mandatory newborn screening program, which leads to early diagnosis and consequent early treatment, in order to improve patient's life quality.

The study investigated the metabolic organic acid disorders among a sample of newborns and children patients, whom were suspected to be diagnosed with intermediary metabolism disorders, in the children's university hospital in Damascus, by detecting organic acids levels in whole blood samples, by tandem mass spectrometry (TMS).

There were 16 organic acids disorder cases, among 208 suspected intermediary metabolism disorders patients.

The study showed a relatively high frequency of organic acids disorders in the studied sample.

The possibility that the remaining cases can be OA cases or any other metabolic disorder cannot be excluded