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Diagnosis

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Urinary organic acid profile will show a characteristic picture.

Definitive diagnosis requires analysis of PCC activity. In individuals with inconclusive genetic testing results, enzymatic activity measurements can help to establish the diagnosis. The assay uses lymphocytes or cultured skin fibroblasts to determine enzyme activity of PCC.

Reference

  1. Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021;44:566–92

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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