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master's thesis
Metaboličke miopatije
Zagreb: University of Zagreb, School of Medicine, 2023. urn:nbn:hr:105:739685
Bukovac, Antonia
University of Zagreb
School of Medicine
Department of Pediatrics

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Bukovac, A. (2023). Metaboličke miopatije (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:739685

Bukovac, Antonia. "Metaboličke miopatije." Master's thesis, University of Zagreb, School of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:105:739685

Bukovac, Antonia. "Metaboličke miopatije." Master's thesis, University of Zagreb, School of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:105:739685

Bukovac, A. (2023). 'Metaboličke miopatije', Master's thesis, University of Zagreb, School of Medicine, accessed 29 April 2024, https://urn.nsk.hr/urn:nbn:hr:105:739685

Bukovac A. Metaboličke miopatije [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2023 [cited 2024 April 29] Available at: https://urn.nsk.hr/urn:nbn:hr:105:739685

A. Bukovac, "Metaboličke miopatije", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:105:739685

Metadata
TitleMetaboličke miopatije
Title (english)Metabolic myopathies
AuthorAntonia Bukovac
MentorIvo Barić (mentor)
Committee memberDanijela Petković Ramadža (predsjednik povjerenstva)
Committee memberMarija Jelušić (član povjerenstva)
Committee memberIvo Barić (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Zagreb
Defense date and country2023-09-19, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
Metaboličke miopatije su raznovrsna skupina heterogenih genetskih poremećaja do kojih dolazi najčešće zbog nedostatne proizvodnje energije u stanicama uslijed manjka enzima u različitim metaboličkim putevima, ali i zbog drugih nasljednih metaboličkih bolesti. Karakterizira ih zahvaćanje skeletnog mišićja no pokauzuju veliku varijaciju kliničke slike i zahvaćenosti drugih organskih sustava. To je rijetka skupina poremećaja od kojih se većina nasljeđuje autosomno recesivnim obrascem. U metaboličke miopatije koje nastaju zbog poremećaja metabolizma lipida svrstavamo poremećaje transporta masnih kiselina i poremećaje oksidacije masnih kiselina gdje pacijenti najčešće imaju povremene metaboličke krize između kojih postoji asimptomatsko razdoblje varijabilnog trajanja. Tipični uzroci pojave simptoma su gladovanje, stres ili produljena ili pretjerana fizička aktivnost. Očitovanje je varijabilno. Do velikog napretka u dijagnostici došlo je nakon uvođenja novorođenačkog probira. Terapija se temelji na modifikaciji prehrane i povećanjem učestalosti obroka. Metaboličke miopatije koje nastaju zbog poremećaja metabolizma ugljikohidrata se specifično manifestiraju tijekom perioda fizičke aktivnosti visokog intenziteta. Temelj terapije je umjereni program fizičke aktivnosti. Mitohondrijske miopatije nastaju posljedično disfunkciji mitohondrija i zahvaćaju više organskih sustava, osobito one koji imaju visoku energetsku potražnju. Specifične mišićne značajke mitohondrijskih poremećaja uključuju kroničnu progresivnu vanjsku oftalmoplegiju, proksimalnu miopatiju i mišićnu bol induciranu naporom. Terapija je primarno suportivna, no postoje nekoliko potencijalnih terapijskih opcija u fazi istraživanja.
Abstract (english)
Metabolic myopathies are a diverse group of heterogeneous genetic disorders that most commonly occur due to insufficient energy production in cells due to deficiencies in enzymes in various metabolic pathways, but also due to other inherited metabolic diseases. They are characterized by the involvement of skeletal muscles but show a wide variation in their clinical presentation and the involvement of other organ systems. This is a rare group of disorders, with most of them being inherited in an autosomal recessive pattern. Metabolic myopathies that arise from disorders of lipid metabolism include disorders of fatty acid transport and fatty acid oxidation, where patients often experience intermittent metabolic crises with asymptomatic periods of variable duration in between. Typical triggers for symptoms include fasting, stress, or prolonged or excessive physical activity. The presentation varies. Significant progress in diagnosis has occurred with the introduction of newborn screening. Treatment is based on dietary modification and increased meal frequency. Metabolic myopathies that arise from carbohydrate metabolism disorders specifically manifest during periods of high-intensity physical activity. The cornerstone of therapy is a moderate exercise program. Mitochondrial myopathies result from mitochondrial dysfunction and affect multiple organ systems, especially those with high energy demands. Specific muscular features of mitochondrial disorders include chronic progressive external ophthalmoplegia, proximal myopathy, and exercise-induced muscle pain. Treatment is primarily supportive, but there are several potential therapeutic options under investigation.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:739685
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2023-10-23 11:50:37