Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

@article{Cavicchi2009HypocitrullinemiaIE,
  title={Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.},
  author={Catia Cavicchi and Sabrina Malvagia and Giancarlo la Marca and Serena Gasperini and Maria Alice Donati and Enrico Zammarchi and Renzo Guerrini and A Luigi Morrone and Elisabetta Pasquini},
  journal={Journal of pharmaceutical and biomedical analysis},
  year={2009},
  volume={49 5},
  pages={
          1292-5
        }
}
In an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns out of 169,000 showed decreased blood citrulline levels. In one of them, molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD). Hypocitrullinemia is not a reliable marker for OTCD newborn screening, especially for late-onset forms that may exhibit normal citrulline levels. However… CONTINUE READING

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