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Neonatal screening for amino acidopathies and congenital hypothyroidism: a pilot program in Southern Brazil

Moacir Wajner; Ana Stela Goldbeck; Francisco Lhullier; Ricardo F. Pires; Cristina B.O. Netto; Roberto Giugliani

Unidade de Genética Médica, Hospital de Clínicas de Porto Alegre e Departamento de Bioquímica, Instituto de Biociências, UFRGS, Rua Sarmento Leite 500, 90046-900 Porto Alegre, RS, Brasil. Send correspondence to M.W.

ABSTRACT

A pilot study on neonatal screening for aminoacidopathies and congenital hypothyroidism was carried out at the Hospital de Clínicas de Porto Alegre. Although preliminary, the program has detected a case of classical phenylketonuria, a patient with congenital hypothyroidism and two newborns with neonatal tyrosinaemia. The utility of such programs in developing countries is discussed.

Keywords: neonatal screening; amino acidopathies; congenital hypothyroidism.

REFERENCES

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Brauer, C., Diepenbrock, F. and Sander, J. (1991). Screening for phenylketonuria by thin layer chromatography. In: Neonatal Screening in the Nineties (Wilcken, B. and Webster, D., eds.). Kelvin Press, Australia, pp. 340.

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Wilcken, B. and Webster, D. (1991). Neonatal Screening in the Nineties. Kelvin Press, Australia.