Abstract
Classical galactosaemia (transferase deficiency) is a relatively rare metabolic disorder, which is important to the paediatrician as a model for the interdisciplinary approach to the treatment of children with inborn errors of metabolism. Early diagnosis and prompt treatment with a galactose-free diet can lead to excellent immediate results and a favourable long term prognosis. Mass neonatal screening constitutes an essential first step in reducing mortality and morbidity among galactosaemic children.
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References
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© 1980 The Society for the Study of Inborn Errors of Metabolism
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Donnell, G.N., Koch, R., Fishler, K., Ng, W.G. (1980). Clinical aspects of 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_5
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DOI: https://doi.org/10.1007/978-94-009-9215-3_5
Publisher Name: Springer, Dordrecht
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