تقصي اضطرابات استقلاب الأحماض الأمينية عند المرضى المشتبه بإصابتهم باضطرابات الاستقلاب الوسيط في مستشفى الأطفال الجامعي في دمشق

الملخص EN

Inborn error of amino acid metabolism is defined as a group of disorders related to the metabolic pathway of amino acids metabolism.

It is inherited as autosomal recessive defects.

Each disorder is due to a defect in a certain enzyme in the metabolic pathway, which causes neurological toxicity which results in damage to organs, delays in development, retardation and may cause death.

This study aims to investigate metabolic disorders in amino acids in infants and children suspected of having disorders in intermediary metabolism according to clinical symptoms and laboratory findings, which define a metabolic disorder.

This is achieving by analyzing their blood samples by tandem mass spectrometry in order to shed light on the frequency of these disorders in suspected Syrian children.

The results may emphasize the importance of establishment of a screening program for newborns, which will lead to detection the affected newborns before the onset of symptoms and leads to start the effective therapy.

This study was performed on infants and children whom admitted to university children's hospital from 5/10/2012 to 20/11/2013 and whom were suspected of presence of a certain disorders in intermediary metabolism according to their symptoms and laboratory findings.

This study included 177 subjects (infants and children).

Samples of whole blood were withdrawn from the heel on filter paper and sent to laboratory to be analyzed by tandem mass spectrometry.

Diagnosis was confirmed in 8 subjects (4.5%) having amino acids metabolic disorders, from 177 subjects included in the study as having a metabolic disorders.

These 8 subjects included 5 cases of maple syrup urine disease, 2 cases of Citrullinemia and one cases of Tyrosinemia.

As a result of investigation the amino acid metabolism disorders among children and neonates suspected to have the presence of intermediary metabolism disorders, noted a large frequency of metabolic disorders in Syria, and the orientation for the diagnosis was late.

Therefore, these findings support the necessity of establishing a screening program for all Syrian newborns, which will result in early detection of these disorders and interception before onset of symptoms, which will lead to start effective therapy and improvement of the quality of life in affected subjects as well as decreasing mortality rate.