DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients

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dc.contributor.advisorHenderson, Howarden_ZA
dc.contributor.advisorOwen, Triciaen_ZA
dc.contributor.authorSwarts, Liezel Catharineen_ZA
dc.date.accessioned2018-01-09T08:53:20Z
dc.date.available2018-01-09T08:53:20Z
dc.date.issued2004en_ZA
dc.description.abstractHyperammonaemia is not an infrequent presentation in the newborn or neonatal period. While the majority are transitory in nature and due to infective processes or liver pathology/immaturity, a significant number are due to defects in enzymes of the urea cycle. This cycle has evolved to cope with waste nitrogen disposal and the de novo synthesis of arginine. There are five distinct enzymatic steps in the urea cycle, and defects in each, result in a biochemically distinct disease. Four of these diseases, deficiencies of carbamyl phosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccmic acid synthetase (ASS), and argininosuccinate lyase (ASL) can present dramatically within the first 24 to 48 hrs of life with progressive lethargy, hypothermia and apnea, all related to very high plasma ammonia levels. These diseases may also present later in infancy, childhood and adulthood with hyperammonemia and episodic mental status changes. The fifth defect, arginase deficiency presents as progressive spastic quadriplegia and mental retardation but with milder elevation of blood ammonia levels. The molecular genetics of these disorders in South Africans has not been explored and there is thus very little information on phenotype/genotype relationships, specific for citizens of this country. This study aims to correct this imbalance and has concentrated initially on OTC deficiency, which is X-linked and therefore the most common defect encountered. Initial work on this project has concentrated on subjects with a classical X-linked OTC phenotype.en_ZA
dc.identifier.apacitationSwarts, L. C. (2004). <i>DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Chemical Pathology. Retrieved from http://hdl.handle.net/11427/26752en_ZA
dc.identifier.chicagocitationSwarts, Liezel Catharine. <i>"DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Chemical Pathology, 2004. http://hdl.handle.net/11427/26752en_ZA
dc.identifier.citationSwarts, L. 2004. DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Swarts, Liezel Catharine AB - Hyperammonaemia is not an infrequent presentation in the newborn or neonatal period. While the majority are transitory in nature and due to infective processes or liver pathology/immaturity, a significant number are due to defects in enzymes of the urea cycle. This cycle has evolved to cope with waste nitrogen disposal and the de novo synthesis of arginine. There are five distinct enzymatic steps in the urea cycle, and defects in each, result in a biochemically distinct disease. Four of these diseases, deficiencies of carbamyl phosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccmic acid synthetase (ASS), and argininosuccinate lyase (ASL) can present dramatically within the first 24 to 48 hrs of life with progressive lethargy, hypothermia and apnea, all related to very high plasma ammonia levels. These diseases may also present later in infancy, childhood and adulthood with hyperammonemia and episodic mental status changes. The fifth defect, arginase deficiency presents as progressive spastic quadriplegia and mental retardation but with milder elevation of blood ammonia levels. The molecular genetics of these disorders in South Africans has not been explored and there is thus very little information on phenotype/genotype relationships, specific for citizens of this country. This study aims to correct this imbalance and has concentrated initially on OTC deficiency, which is X-linked and therefore the most common defect encountered. Initial work on this project has concentrated on subjects with a classical X-linked OTC phenotype. DA - 2004 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2004 T1 - DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients TI - DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients UR - http://hdl.handle.net/11427/26752 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/26752
dc.identifier.vancouvercitationSwarts LC. DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Chemical Pathology, 2004 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/26752en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Chemical Pathologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherchemical Pathologyen_ZA
dc.titleDNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patientsen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMSc (Med)en_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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