Abstract
A late-onset case of propionic acidaemia with favourable response to restriction of dietary protein is described. During a keto-acidotic crisis, this patient demonstrated unexpectedly low concentrations of propionic acid and glycine in blood and urine but increased urinary output of some secondary metabolites.
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Rosenberg, L. E. Disorders of propionate, methylmalonate and cobalamin metabolism. In Stanbury, J. B., Wyngaarden, J. B. and Frederickson, D. S. (eds.)The Metabolic Basis of Inherited Disease, McGraw-Hill Book Company, New York, 1978, pp. 411–429
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Merinero, B., DelValle, J.A., Jiménez, A. et al. Late onset type of propionic acidaemia: Case report and biochemical studies. J Inherit Metab Dis 4, 71–72 (1981). https://doi.org/10.1007/BF02263596
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DOI: https://doi.org/10.1007/BF02263596