title: Phenylketonuria in South Africa. A report on the status quo.
abstract: During the 1980s a pilot newborn screening programme for the early detection (and treatment) of amino acidopathies, especially phenylketonuria (PKU), was conducted by the Department of National Health and Population Development. The motivation for this pilot programme was the high priority accorded PKU screening in Europe and North America and the presumed similarly high incidence of this condition among South Africans of European origin. From a cohort of 59,600 newborns screened in the Pretoria area over a period of 8 consecutive years (1979-1986), only 1 case of PKU (and 1 of tyrosinaemia) was found. Statistically this result is compatible (Poisson distribution, 95% confidence interval) with a 'true' incidence of not more than 3/59,600 (or about 1/20,000) newborns. It is concluded from this result and other relevant information that newborn screening for PKU and other amino acidopathies is not cost-effective and justifiable, especially against the background of prevailing demographic conditions and more pressing health priorities in South Africa. This particular screening programme was discontinued in 1986. The results and conclusions are presented here for the record.
authors.affiliation: Genetic Services, Department of National Health and Population Development, Pretoria.
authors.forename: H W
authors.initials: HW
authors.lastname: Hitzeroth
authors.forename: C E
authors.initials: CE
authors.lastname: Niehaus
authors.forename: D C
authors.initials: DC
authors.lastname: Brill
mesh_terms: D003362:Cost-Benefit Analysis; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000191:economics; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D010865:Pilot Projects; D013019:South Africa / Q000453:epidemiology