Investigation of aminoacid metabolism in patients with spina bifida

Spina bifida is the most common and most complex central nervous system malformation in humans. The incidence of spina bifida in the world is still observed as 0.3-4.5 per 1000 births. At a normal pregnancy rate, the probability of giving birth to a baby with a defect on the middle line is 1/1000. Usually spina bifida occurs in the third and fourth weeks of pregnancy, when the spinal cord part of the fetus cannot close properly. The etiology of spina bifida is heterogeneous. It is believed that most of the non-syndromic spina bifida are of multifactorial origin under the influence of both genetic and environmental factors. Environmental factors associated with an increased risk of spina bifida include increased pregnancy weight, maternal smoking, medication intake, especially Decongestant medications, and maternal diseases such as diabetes and hyperthermia. In addition, dietary factors such as the consumption of chlorinated water, inositol intake, simple sugar intake, and the intake of trace elements and other micronutrients are also estimated to cause spina bifida. However, the clear cause of the disease has not yet been determined. Elevated maternal serum alpha-fetoprotein levels are usually indicative of spina bifida aperta, but ultrasound is necessary to confirm the diagnosis, as the AFP level also increases in different cases, such as twin pregnancy. Obstetric ultrasonography for screening purposes is the first routine method for detecting the disease during pregnancy in many countries. However, sometimes it fails to detect closed spina bifida. Since there is no definitive biochemical marker that determines the diagnosis of spina bifida, serious research is ongoing in this area.Currently, serious studies are being conducted in the field of metabolomics for the diagnosis and treatment of such diseases. In metabolomics studies, various metabolites such as amino acid, carnitine, fatty acid and organic acid profile are examined. This study was conducted by examining the free amino acid profile of individuals with spina bifida using the LC-MS/MS method in order to determine the potential of amino acids to be used both in the xi diagnosis and treatment of the disease. In the study, plasma samples of 40 patients and 40 healthy children diagnosed with spina bifida were used in the Neurosurgery department of Harran university research and application hospital. The profiles of 48 free amino acids in plasma samples were examined by LC-MS/Ms.The analysis of the obtained data was performed with SPSS and metaboanalyst 5. As a result of the study, it was found that Sargosine and Glutamic Acid Amino Acids significantly increased in spina bifida beers compared to the control group, while 4-OH-Proline and Tryptophan amino acids significantly decreased