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Late onset type of propionic acidaemia: Case report and biochemical studies

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Journal of Inherited Metabolic Disease

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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References

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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

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