Pediatric Metabolism
Inborn errors of metabolic disorders are due to a single gene defect. These disorders are generally inherited autosomal recessive. Although those are in the status of rare disorders, the number of all diseases are too many as collectively. Today there are more than 3500 defined inherited metabolic disorders. Consanguine marriages are still common in our country. Therefore, the autosomal recessive inherited diseases are very important for our country.
Our clinic provides service about screening, diagnosis and treatment of the metabolic disorders. In addition, the diagnosis and follow-up of the diseases, which are included in the national screening programme such as phenylketonuira and biotinidase deficiency, are carried out in our clinic. Dyslipidemia is a common problem in our population and this disease is also investigated in our clinic. Moreover, feeding difficulties and growth developmental delay can be treated by our healthcare professionals.
Two associate professors work in the department of metabolism, who were educated in the branch of metabolic disorders. Our clinic is also dedicated to education purposes and two fellow assistants have been attending their education in this sense. In addition, a dietician who is an expert for metabolic disorders is a member of our metabolism department.