Poremećaji transmetilacije u djece

master's thesis

• Title (english): Transmethylation disorders in children
• Author: Iva Golubić
• Mentor: Mario Ćuk (mentor)
• Committee member: Danko Milošević (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Mario Ćuk (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2017-07-14, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Poremećaji transmetilacije skupina su rijetkih metaboličkih bolesti vezanih uz ciklus metionina. Skupni je to naziv za četiri enzimopatije koje uzrokuju neadekvatnu metilaciju i prvenstveno djeluju na tri ciljna organa: mozak, jetru i mišiće. Treći enzim u metaboličkoj reakciji metionina je S-adenozilhomocistein hidrolaza. Nedostak aktivnosti SAHH bolesti je prvi puta opisana od strane hrvatskih istraživača 2004. godine. Do sada je zabilježeno tek 10 slučajeva spomenute bolesti. Bolest je to koja se vrlo teško dijagnosticira ako kliničar s njome nije upoznat. Povišene vrijednosti kretin kinaze i miopatija nalazi su koji moraju pobuditi sumnju na ovu bolest, a dijagnozu postavljamo mjerenje S-adenozilhomocisteina i S-adenozilmetionina. Terapija nije etiološka, ali se bolest uglavnom može držati pod kontrolom primjerenom dijetom. Važno je dijetu s niskim udjelom proteina početi provoditi u što ranijoj dobi da bi se izbjegle ireverzibilne posljedice toksičnog djelovanja S-adenozilhomocisteina na mozak i lokomotorni sustav, odnosno cilj terapije je izbjeći neuromotoričko zaostajanje djeteta. Prognoza je bolja, a komplikacije rjeđe ako se bolest prije otkrije. Komplikacije su najčešće vezane uz tromboembolijske incidente, hemoragijsku dijatezu i promjene na jetri. Pacijenti zahtijevaju multidisciplinarni pristup i doživotno praćenje kako bi se bolest što bolje kontrolirala i kako bi se spriječile njene komplikacije.

Abstract (english)

Transmethylation disorders are group of metabolic diseases related to the methionine cycle. It is a common name for four enzymes that cause inadequate methylation and, thus, primarily affect three organs: brain, liver and muscles. The third enzyme in metabolic reaction of methionine is S-adenosylhomocysteine hydrolase. Lack of activity of this enzyme is the disease which was first described by Croatian researchers in 2004. Up to now, only 10 cases of this disease have been reported. The illness is very difficult to be diagnosed by MDs, as many are unfamiliar with it. However, elevated levels of creatine kinase, accompanied by myopathy, are the clearest signs for suspecting this particular form of transmethylation disorder. Diagnosis is made by measuring S-adenosylhomocysteine and S-adenosylmethionine. Therapy is not etiological, but the disease can usually be controlled by an adequate diet. It is important to start a low-protein diet as early as possible in order to avoid the irreversible effects of AdoHcy's toxicity on the brain and locomotor system. The main goal is to prevent neuromotor retardation. Prognosis is better and complications are less severe if the disease is detected earlier. Complications are usually associated with thromboembolic incidents, hemorrhagic diathesis and liver pathology. Patients need a multidisciplinary approach and lifelong follow-up in order to control disease and prevent complications.

• Keywords: transmetilacija; poremećaji ciklusa metionina; enzimopatija; dijagnoza
• Keywords (english): transmethylation; methionine cycle disorders; enzymopathy; diagnosis
• Language: croatian
• URN:NBN: urn:nbn:hr:105:700306
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-03-23 11:15:19