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.
Similar content being viewed by others
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
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Leonard, J.V., Daish, P. Evaluation of cofactor responsiveness. J Inherit Metab Dis 8 (Suppl 1), 17–19 (1985). https://doi.org/10.1007/BF01800654
Issue Date:
DOI: https://doi.org/10.1007/BF01800654