The Importance of Genetic Diagnosis for Inherited Metabolic Diseases: Distribution and Experience of Cukurova University Faculty of Medicine Balcali Hospital

Abstract

Purpose:Hereditary metabolic diseases are a wide clinically and genetically heterogeneous group of diseases that belong to rare diseases but overall with a high frequency in our population. In this study, we aimed to identify the distribution of the patients by the diagnosis retrospectively using the available data from the Medical Genetics Department of Cukurova University Medical Faculty. Patients and Methods:Between April 2013 when the Medical Genetics Department was first established and April 2016, the database of the department together with the referred patients from Pediatric Metabolism and Endocrinology Department and Department of Gynecology and Obstetrics were obtained. Results:1789 patients from 577 families underwent genetic testing and genetic counseling. The positivity rate of genetic testing was %31.5, while the carrier rate was %20.15. Among all these cases, the most common three of them were biotinidase deficiency, phenylketonuria and glycogen storage diseases were the most common ones while the phenylketonuria, biotinidase deficiency and mucopolysaccharidosis had the highest positivity rate among all (Table 1). Additionally, prenatal genetic diagnosis due to the clinical indications was done for 21 cases. Conclusion:Inherited metabolic diseases on genetically heterogeneous base resulted in clinically complex features, are one of the most important public health issues in our country. Therefore, the awareness in rare diseases is really important. Our results also provide a solid background for possible future newborn screening programs and highlight the importance genetic testing from the perspective of our single-center experience in which consanguineous marriages are in high frequency as well as all around the country.