Kvantitativna analiza orotske kiseline i značaj u dijagnostici organskih aicudurija i poremećajima urea ciklusa

master's thesis

• Title (english): Quantitative analysis of oracetic acid and significance in the diagnosis of organic aciduria and urea cycle disorders
• Author: Tarik Kapić
• Mentor: Ksenija Fumić (mentor)
• Committee member: Ksenija Fumić (predsjednik povjerenstva)
• Committee member: Olga Gornik (član povjerenstva)
• Committee member: Irena Žuntar (član povjerenstva)
• Granter: University of Zagreb; Faculty of Pharmacy and Biochemistry; (Department of medical biochemistry and haematology); Zagreb
• Defense date and country: 2017-10-20, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Pharmacy; Medical Biochemistry

Abstract

Nasljedne metabolički poremećaji pripadaju skupini monogenih nasljednih poremećaja koji nastaju mutacijom jednog
gena na određenom genskom lokusu, a nasljeđuju se prema Mendelovim zakonima nasljeđivanja. Organske acidurije su
heterogena skupina nasljednih metaboličkih bolesti, a karakterizirane su nakupljanjem jedne ili više organskih kiselina
u tjelesnim tekućinama, spojeva sa jednom ili više karboksilnih ili kiselih fenolnih skupina koje ne sadrže bazične amino
skupine.
Poremećaji urea ciklusa su vrlo osjetljivi i problematični isključivo zbog nakupljanja toksičnog amonijaka kao posljedice
ovakvih poremećaja. Sa druge strane zbog nemogućnosti eliminacije toksičnog amonijaka aktiviraju se drugi alternativni
putovi njegove eliminacije od kojih je jedan ključan u nastajanju orotske kiseline.
Orotska kiselina je jedna od organskih kiselina koja je se nakuplja u fiziološkim tekućinama zbog poremećaja
urea ciklusa tj. deficita jednog od njenih enzima (OTC deficit) ili zbog poremećaja sinteze primidina što uvelike dovodi
do njenog značaja u samoj patologiji i dijagnostici nasljednih metaboličkih poremećaja.
Kvantitazivnom analizom (in house) metode za određivanje orotske kiseline željelo se ispitati i prekontrolirati
sama metoda određivanja orotske kiseline i način provjeriti pa i unaprijediti samu dijagnostiku navedene organske
kiseline.
Važno za naglasiti jeste da orotska kiselina kao jedna od temeljnih organskih kiselina ima iznimno veliku
važnost pri samom novorođenačkom probiru tj. njene povišene vrijednosti i patologiju za koju je ona vezana bi trebalo
određivati odmah pri rođenju djece,jer poremećaji za koje je vezana imaju jako dobru prognostičku sliku ukoliko se
otkriju i dijagnosticiraju na vrijeme, a to je ipak u prvim danima dijetetovog života.

Abstract (english)

Herediatry metabolic diseases belong to a group of monogenic herediatry disorders who are caused by mutation of a
single gene at a certan gene locus, and inherited according Mendelian inheritance. Organic acidurias are a heterogenous
group of hereditary metabolic deseases, characterized by acumulation of one or more organic acids in body fluid,
compounds with one or more carboxyl groups or acid phenol groups without basic amino groups.
The urea cycle disorders are very sensitive and they are a huge problem because of the acumulation of toxic
ammonia as a consequence of such disorders. On the other hand due to the inability to eliminatwe toxic ammonia, other
alternative pathways are activated, and one of them is the most important for formation an orotic acid.
Oroctic acid is one of the organic acids that accumulates in physiological fluids because of the urea cycle
deficiency (OTC deficiency) or because of the disorder of the primidine synthesis which greatly results in its own
pathology and the diagnosis of hereditary metabolic disorders.
By in vitro methods of determination of orotic acid, it was also necessary to examine and control the method
of determination as well as to verify and improve the diagnostics of organic acid.
It is important to say that the oracetic acid is one of the basic organic acids and it has the importance at the
newborn screening of the so-called elevated value and the pathology to which it is related should be determined
immediately upon the birth of the children because these disorders are related to have a very good prognostic image if
we detected and diagnosed in time.

• Keywords: nasljedni metabolički poremećaji; orotska kiselina; orotska acidurija; urea ciklus
• Keywords (english): herediatry metabolic diseases; orotic acid; organic aciduria; urea cycle
• Language: croatian
• URN:NBN: urn:nbn:hr:163:457121
• Study programme: Title: Medical biochemistry; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: magistar/magistra medicinske biokemije (magistar/magistra medicinske biokemije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-12-17 11:34:14