Evaluation of diagnosis, clinical and laboratory parameters and follow-up findings of inborn errors of metabolism patients who get diagnosed or followed up in Çukurova University Medical Faculty Pediatric Metabolism Unit

Aim:In this study, inborn errors of metabolism patients in Çukurova University Medical Faculty Pediatric Metabolism Unit are analyzed in the context of how they are diagnosed and treated and how their prognosis have become.We accompained by inborn errors metabolism profile in the consanguineous marriage of our region is intense the age of diagnosis of patients, to receive treatment and compliance of treatment's rates and prognosis; targeted to throw light on hencefort planed to regional or national screening programmes. We aimed to emphasize importance of our region with our rates in the country of certain metabolic disaeses.Material and Method: Since 2009, 1112 patients who applied to our outpatient clinic due to suspicious results in national neonatal screening programme, 747 Phenylketonuria patients , 51 Mucopolisaccharidosis patients, 48 Organic acidemi patients, 21 Gaucher patients, 9 Fabry patients, 14 Nieman Pick patients, 16 Cystinosis patients that are followed up in our outpatient clinic are analyzed retrospectively. Patients birth dates, ages at first aplication, reasons of application, diagnosis methods, family histories, parental consanguinty, follow-up periods, treatment conditions, mental motor development status, rates of benefit from treatment and relevant demographic datas are studied.Findings: We have detected so early diagnosis is possible with screening programme in Phenylketonuria. The level of psychomotor development are well who recieved early diagnosis. We found that diagnosis is difficult and time consuming of Mucopolisaccharidosis, Organic acidemi, Gaucher, Fabry, Nieman Pick, Cystinosis . Also we have detected on this patients level of follow-up is inadequate and it could not be posible to leave a sufficient level of care patients without administration support and priorities with state policies. If we compared as a active following number of patients our clinic with the other major centers in our country, eventhough our limited labaratory facilitie and insufficient number of doctor we have detected in second place Phenylketonuria, Gaucher, Fabry, Nieman Pick type C, in fourth place Mucopolisaccharidosis.Conclusion: Inborn errors of metabolism is frequent in our country due to consanguineous marriage. Throughout the country our region is higher than that. In our country's doctors and families with insufficient level of knowledge on this subject. Healt policies on inborn errors of metabolism should not be only screening. Health policies should be developed.Key Words:Inborn errors of metabolism disease, organic asidemia, Iysosomal storage diseases, Gauche, Maple Syrup Urine diseases, Pompe, Nieman-Pick, Cystinosis, Biotinidase, Phenylketonuria, Mucopolisaccharidosis, National neonatal screening programme, Turkey.