Significance of amino acids determination in diagnosis and management of urea cycle disorders

Rad se bavi poremećajima ciklusa ureje, koji nastaju kao posljedica mutacije jednog od enzima potrebnih za eliminaciju amonijevih iona i sintezu arginina. U radu je naglasak na dijagnostici poremećaja ciklusa ureje u kojoj važnu ulogu igra određivanje aminokiselina. U prvom dijelu rada opširno je opisan ureja ciklus. Prikazane su smjernice koje se preporučuje slijediti pri dijagnostici poremećaja ciklusa ureje, kao i postupci koji se primjenjuju pri liječenju akutnih i kroničnih stanja. U drugom dijelu opisana je svrha rada koji ima za cilj na primjerima pacijenata prikazati put od kliničke sumnje do konačne dijagnoze bolesti. Treći dio prikazuje metode koje se koriste pri dijagnostici poremećaja ciklusa ureje. Četvrti dio daje pregled rezultata pacijenata koji se odnosi na kliničke simptome, učinjene pretrage i konačnu dijagnozu bolesti. Također, u tome se dijelu raspravlja o važnosti određivanja aminokiselina pri postavljanju dijagnoze bolesti. Na kraju dolazi zaključak kojim se sumira prethodno navedeno u jednu cjelinu.This diploma thesis deals with urea cycle disorders which are defined as inborn errors of ammonia detoxification or arginine synthesis due to the absence of activity of any of the five enzymes that are involved in the urea cycle. The emphasis is on diagnosis of urea cycle disorders where determination of amino acids is of great importance. In the first part of this work urea cycle has been extensively described including guidelines developed by medical professionals as well as procedures for short and long-term treatment of patients with urea cycle disorders. In second part purpose of writing is written. Aim of this paper is to demonstrate importance of amino acids determination in plasma of the patients that are suspected of having this kind of disorders. Third part describes methods used to diagnose urea cycle disorders. The fourth part presents the results of patients and it contains discussion that explains why is important to follow guidelines and to determine amino acids while trying to deal with urea cycle disorders. The conclusion summarizes all mentioned before in one single unit