[Detection of inborn errors of metabolism in San Pablo, Brazil].
The authors report their experience in populational screenings, first regarding hyperphenylalaninemias at the city of S Paulo, by own programmation. In the same aminoacidopathies detection program, a similar methodology is being used in urine, in the children's health services of the State of S. Paulo. The same urine procedure is being used to select IEM of carbohydrates and mucopolysaccharides A programme similar to the one used for hyperphenylalaninemia is being performed for the detection of congenital hypothyroidism; T4 tests were made by radioimmunoassay (RIA) microtechnique in newborns and children in the first months of life. A similar experience in the detection of heterozygotes for GM2-ganglyosidosis type I (Tay-Sach disease) by performing the hexosaminidase A test is also reported. The importance of the performing of such populational screening tests, even in underdeveloped countries is stressed. Taking into account the high cost of the maintenance of patients with mental retardation (MR0, the cost of such programmes may become a saving whenever early diagnosis and therapy can avoid the MR.
D001938:Brazil; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000517:prevention & control; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D010661:Phenylketonurias / Q000175:diagnosis; D013661:Tay-Sachs Disease / Q000175:diagnosis
Detección de errores congénitos del metabolismo en San Pablo, Brasil.