Browsing by Author "Brown, Ruth"

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    Open Access
    The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa
    (BioMed Central Ltd, 2002) Henderson, Howard; Leisegang, Felicity; Brown, Ruth; Eley, Brian
    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.
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    Open Access
    Cystic fibrosis in black patients: Western Cape experiences
    (2006) Westwood, Tony; Brown, Ruth
    Cystic fibrosis (CF) in non-American black Africans has only been described in case reports. CF was first reported in a South African black child with meconium ileus in 1959.1 Ten years later Levin and colleagues2 described twins born to a Sotho mother and a Zulu father. One twin had meconium ileus, the other had pancreatic insufficiency. Not long after the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989, molecular genetics proved that CF in Africa was a CFTR mutation-based disease. A study of 3 CF cases in black South Africans included clinical data and the results of a systematic investigation of the CFTR gene in each case.3 Four genes had the 3120+1G A mutation that is significantly prevalent in African Americans. Another carried a different mutation (G1249E) and the last carried a previously unidentified 54 base pair deletion in exon 17a.