Abstract
The response to cofactor therapy in inborn errors of metabolism may be dramatic with complete resolution of the clinical illness but more commonly the response is absent or partial. When assessing cofactor responsiveness clinical and biochemical findings as well as the natural history of the disorder must be taken into account.
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References
Barnes, N. D., Hull, D., Balgobin, L. and Gompertz, D. Biotin-responsive propionicacidaemia. Lancet ii (1970) 244–245
Buist, N. R. M. and Kennaway, N. G. Metabolic disorders. In Forfar, J. O. and Arneil, G. C. (eds.) Textbook of Paediatrics, 3rd Edn., Churchill Livingstone, Edinburgh, 1984, pp. 1200–1234
Francis, D. E. M. Diets for Sick Children, 3rd Edn., Blackwell Scientific, Oxford, 1974, p. 348
Kaye, C. I., Morrow, G. and Nadler, H. L. In vitro “responsive” methylmalonic acidaemia: a new variant. J. Pediatr. 85 (1974) 55–59
Matsui, S. M., Mahoney, M. J. and Rosenberg, L. E. The natural history of the inherited methylmalonic acidemias. N. Engl. J. Med. 308 (1983) 857–861
Wilcken, B., Kilham, H. A. and Faull, K. Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency. J. Pediatr. 91 (1977) 428–430
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© 1985 SSIEM and MTP Press Limited
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Leonard, J.V., Daish, P. (1985). Evaluation of Cofactor Responsiveness. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_4
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DOI: https://doi.org/10.1007/978-94-011-8019-1_4
Publisher Name: Springer, Dordrecht
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