Abstract
The successful prenatal detection of classical galactosaemia by the assay of galactose-1-phosphate uridyl transferase (GalPUT) in amniotic fluid cells, has been reported by several groups of workers1–3. In fact, it is accurate, precise and one of the more satisfactory prenatal diagnostic tests presently available. Doubts are likely to arise, however, over the place of in utero detection and pregnancy termination in the management of this particular disorder. Opinion on this issue will vary, largely depending on one’s view about the alternative, of neonatal diagnosis and long term dietary treatment. It is apparent that there are different opinions on the success of this4–5.
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References
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© 1980 The Society for the Study of Inborn Errors of Metabolism
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Holton, J.B., Raymont, C.M. (1980). Prenatal diagnosis of classical galactosaemia. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_9
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DOI: https://doi.org/10.1007/978-94-009-9215-3_9
Publisher Name: Springer, Dordrecht
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