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Recently, from 6,000 to 8,000 rare diseases have been registered, of which over 1,000 are inherited metabolic diseases. In Slovakia, a nationwide newborn screening for phenylketonuria − an inherited metabolic disease that occurred frequently in our country − has been performed over the last 40 years. Special workplaces in Bratislava, Banská Bystrica and Košice were set up to provide optimal availability of treatment for patients with phenylketonuria. Today, Inherited Metabolic Diseases Centre in Children's Faculty Hospital in Bratislava uses the laboratories at the Department of Laboratory Medicine and Molecular Genetics at the 2nd Paediatrics Department. When finalizing the diagnosis, we cooperate with the Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital in Bratislava. However, international cooperation is needed. Clinical and ambulatory care of patients with inherited metabolic diseases is in the centre distributed to the paediatric and neurological departments. In recent years, the problem of inherited metabolic diseases has no longer been just a paediatric problem. While in past the majority of patients did not live to adulthood, today, thanks to new drugs and therapeutic procedures, it has been changed. Improving the knowledge of the pathogenesis, diagnosis and especially substitution therapy, patients can reach the age of adulthood and they can even be diagnosed in adulthood. The paper provides personal experience with the treatment of inherited metabolic diseases in Slovakia, mainly the substitution therapy. V súčasnosti poznáme 6000 - 8000 zriedkavých chorôb, približne 1000 z nich tvoria vrodené metabolické choroby. Na Slovensku prebieha národný skríningový program, v rámci neho sa už 40 rokov skrínuje fenylketónúria - vrodená metabolická choroba. Liečba prebieha v špeciálne určených centrách v Bratislave, Banskej Bystrici a Košiciach. Centrum vrodených metabolických chorôb pri Detskej fakultnej nemocnici v Bratislave spolupracuje s genetickými laboratóriami druhej detskej kliniky . Pri finálnom určení diagnózy spolupracujeme tiež s Oddelením lekárskej biológie genetiky a klinickej genetiky lekárskej fakulty a Univerzitnej nemocnice v Bratislave. Potrebná je tiež medzinárodná spolupráca. Klinická a ambulantná starostlivosť pacientov s vrodenými metabolickými chorobami prebieha v spolupráci s detskými a neurologickými oddeleniami. V ostatných rokoch problematiky liečby vrodených metabolických chorôb nie je len otázkou pediatrov. Kým v minulosti sa pacienti nedožívali dospelosti, dnes vďaka substitučnej liečbe pacienti sa dožívajú dospelosti, dokonca môžu byť diagnostikovaní až v dospelosti. V práci prezentujem vlastné skúsenosti s liečbou vrodených metabolických chorôb na Slovensku.

acta facultatis pharmaceuticae universitatis comenianae

The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavými vrodenými metabolickými chorobami v SR