Investigating the porphyrias through analysis of biochemical pathways.

Simple item page
dc.contributor.authorRuegg, Evonne Teresa Nicole
dc.date.accessioned2015-03-29T03:54:56Z
dc.date.available2015-03-29T03:54:56Z
dc.date.issued2014en
dc.description.abstractABSTRACT The porphyrias are a diverse group of metabolic disorders arising from diminished activity of enzymes in the heme biosynthetic pathway. They can present with acute neurovisceral symptoms, cutaneous symptoms, or both. The complexity of these disorders is demonstrated by the fact that some acute porphyria patients with the underlying genetic defect(s) are latent and asymptomatic while others present with severe symptoms. This indicates that there is at least one other risk factor required in addition to the genetic defect for symptom manifestation. A systematic review of the heme biosynthetic pathway highlighted the involvement of a number of micronutrient cofactors. An exhaustive review of the medical literature uncovered numerous reports of micronutrient deficiencies in the porphyrias as well as successful case reports of treatments with micronutrients. Many micronutrient deficiencies present with symptoms similar to those in porphyria, in particular vitamin B6. It is hypothesized that a vitamin B6 deficiency and related micronutrient deficiencies may play a major role in the pathogenesis of the acute porphyrias. In order to further investigate the porphyrias, a computational model of the heme biosynthetic pathway was developed based on kinetic parameters derived from a careful analysis of the literature. This model demonstrated aspects of normal heme biosynthesis and illustrated some of the disordered biochemistry of acute intermittent porphyria (AIP). The testing of this model highlighted the modifications necessary to develop a more comprehensive model with the potential to investigated hypotheses of the disordered biochemistry of the porphyrias as well as the discovery of new methods of treatment and symptom control. It is concluded that vitamin B6 deficiency might be the risk factor necessary in conjunction with the genetic defect to trigger porphyria symptoms.en
dc.identifier.urihttp://hdl.handle.net/10092/10257
dc.identifier.urihttp://dx.doi.org/10.26021/7974
dc.language.isoen
dc.publisherUniversity of Canterbury. Biochemistryen
dc.relation.isreferencedbyNZCUen
dc.rightsCopyright Evonne Teresa Nicole Rueggen
dc.rights.urihttps://canterbury.libguides.com/rights/thesesen
dc.subjectAcute attacken
dc.subjectAcute intermittent porphyriaen
dc.subjectAminolevulinateen
dc.subjectAminolevulinate dehydrataseen
dc.subjectAminolevulinate dehydratase deficiency porphyriaen
dc.subjectAminolevulinate synthaseen
dc.subjectB vitaminsen
dc.subjectBiomodelingen
dc.subjectCofactorsen
dc.subjectComputational modelingen
dc.subjectCongenital erythopoietic porphyriaen
dc.subjectCoproporphyrinogen oxidaseen
dc.subjectErythropoietic protoporphyriaen
dc.subjectFerrochelataseen
dc.subjectGABAen
dc.subjectGlucose therapyen
dc.subjectGlycineen
dc.subjectHemeen
dc.subjectHeme biosynthesisen
dc.subjectHeme deficiencyen
dc.subjectHeme therapyen
dc.subjectHepatoerythropoietic porphyriaen
dc.subjectHepatorenal Tyrosemiaen
dc.subjectHereditary coproporphyriaen
dc.subjectIronen
dc.subjectIron deficiency anemiaen
dc.subjectKineticsen
dc.subjectLead poisoningen
dc.subjectLiver transplanten
dc.subjectMicronutrientsen
dc.subjectPLPen
dc.subjectPorphobilinogenen
dc.subjectPorphobilinogen deaminaseen
dc.subjectPorphyriaen
dc.subjectPorphyria cutanea tardaen
dc.subjectPorphyrinsen
dc.subjectProphylaxisen
dc.subjectProtoporphyrinogen oxidaseen
dc.subjectPyridoxalen
dc.subjectPyridoxal phosphateen
dc.subjectPyridoxineen
dc.subjectSerotoninen
dc.subjectSuccinyl-CoAen
dc.subjectTCA cycleen
dc.subjectTryptophanen
dc.subjectTryptophan pyrrolaseen
dc.subjectUroporphyrinogen decarboxylaseen
dc.subjectUroporphyrinogen synthaseen
dc.subjectVariegate porphyriaen
dc.subjectVitamin B6en
dc.subjectVitamin therapyen
dc.subjectVitaminsen
dc.subjectX-linked protoporphyriaen
dc.subjectX-linked sideroblastic anemiaen
dc.titleInvestigating the porphyrias through analysis of biochemical pathways.en
dc.typeTheses / Dissertations
thesis.degree.disciplineBiochemistry
thesis.degree.grantorUniversity of Canterburyen
thesis.degree.levelMastersen
thesis.degree.nameMaster of Scienceen
uc.bibnumber2077814
uc.collegeFaculty of Scienceen
Files
Original bundle
Now showing 1 - 2 of 2
Thumbnail Image
Name:
RueggMScBioChem2014.pdf
Size:
3.18 MB
Format:
Adobe Portable Document Format
Download
Thumbnail Image
Name:
Ruegg_E_Use_of_thesis_form_2014.pdf
Size:
76.61 KB
Format:
Adobe Portable Document Format
Download
Collections
Science: Theses and Dissertations