The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa

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dc.contributor.authorHenderson, Howarden_ZA
dc.contributor.authorLeisegang, Felicityen_ZA
dc.contributor.authorBrown, Ruthen_ZA
dc.contributor.authorEley, Brianen_ZA
dc.date.accessioned2015-10-12T10:48:41Z
dc.date.available2015-10-12T10:48:41Z
dc.date.issued2002en_ZA
dc.description.abstractBACKGROUND:The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. METHODS: Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the common S135L and Q188R transferase gene mutations, using PCR-based assays. Screening for the S135L mutation in black newborns was used to estimate the carrier rate for galactosemia in black South Africans. RESULTS: A positive diagnosis of galactosemia was made in 17 patients between the years 1980 to 2001. All had very low or absent galactose-1-phosphate uridyltransferase (GALT) activity, and normal galactokinase levels. The mean age at diagnosis was 5.1 months (range 4 days to 6.5 months). A review of 9 patients showed that hepatomegaly (9/9), and splenomegaly, failure to thrive, developmental delay, bilateral cataracts (6/9) were the most frequent features at diagnosis. Six had conjugated hyperbilirubinemia. Four experienced invasive E. coli infection before diagnosis. Ten patients were submitted to DNA analysis. All 4 black patients and 2 of mixed extraction were homozygous for the S135L allele, while all 3 white patients were homozygous for the Q188R allele. The remaining patient of mixed extraction was heterozygous for the Q188R allele. The estimated carrier frequency of the S135L mutation in 725 healthy black newborns was 1/60. CONCLUSIONS: In the absence of newborn screening the delay in diagnosis is most often unacceptably long. Also, carrier frequency data predict a galactosemia incidence of approximately 1/14 400 for black newborns in the Cape Metropole, which is much higher than the current detection rate. It is thus likely that many patients go undetected.en_ZA
dc.identifier.apacitationHenderson, H., Leisegang, F., Brown, R., & Eley, B. (2002). The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. <i>BMC Pediatrics</i>, http://hdl.handle.net/11427/14162en_ZA
dc.identifier.chicagocitationHenderson, Howard, Felicity Leisegang, Ruth Brown, and Brian Eley "The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa." <i>BMC Pediatrics</i> (2002) http://hdl.handle.net/11427/14162en_ZA
dc.identifier.citationHenderson, H., Leisegang, F., Brown, R., & Eley, B. (2002). The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC pediatrics, 2(1), 7.en_ZA
dc.identifier.ris TY - Journal Article AU - Henderson, Howard AU - Leisegang, Felicity AU - Brown, Ruth AU - Eley, Brian AB - BACKGROUND:The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. METHODS: Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the common S135L and Q188R transferase gene mutations, using PCR-based assays. Screening for the S135L mutation in black newborns was used to estimate the carrier rate for galactosemia in black South Africans. RESULTS: A positive diagnosis of galactosemia was made in 17 patients between the years 1980 to 2001. All had very low or absent galactose-1-phosphate uridyltransferase (GALT) activity, and normal galactokinase levels. The mean age at diagnosis was 5.1 months (range 4 days to 6.5 months). A review of 9 patients showed that hepatomegaly (9/9), and splenomegaly, failure to thrive, developmental delay, bilateral cataracts (6/9) were the most frequent features at diagnosis. Six had conjugated hyperbilirubinemia. Four experienced invasive E. coli infection before diagnosis. Ten patients were submitted to DNA analysis. All 4 black patients and 2 of mixed extraction were homozygous for the S135L allele, while all 3 white patients were homozygous for the Q188R allele. The remaining patient of mixed extraction was heterozygous for the Q188R allele. The estimated carrier frequency of the S135L mutation in 725 healthy black newborns was 1/60. CONCLUSIONS: In the absence of newborn screening the delay in diagnosis is most often unacceptably long. Also, carrier frequency data predict a galactosemia incidence of approximately 1/14 400 for black newborns in the Cape Metropole, which is much higher than the current detection rate. It is thus likely that many patients go undetected. DA - 2002 DB - OpenUCT DO - 10.1186/1471-2431-2-7 DP - University of Cape Town J1 - BMC Pediatrics LK - https://open.uct.ac.za PB - University of Cape Town PY - 2002 T1 - The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa TI - The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa UR - http://hdl.handle.net/11427/14162 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/14162
dc.identifier.urihttp://dx.doi.org/10.1186/1471-2431-2-7
dc.identifier.vancouvercitationHenderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC Pediatrics. 2002; http://hdl.handle.net/11427/14162.en_ZA
dc.language.isoengen_ZA
dc.publisherBioMed Central Ltden_ZA
dc.publisher.departmentDivision of Chemical Pathologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution Licenseen_ZA
dc.rights.urihttp://creativecommons.org/licenses/by/2.0en_ZA
dc.sourceBMC Pediatricsen_ZA
dc.source.urihttp://www.biomedcentral.com/bmcpediatren_ZA
dc.subject.otherChemical Pathologyen_ZA
dc.titleThe clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africaen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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