m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

  title={m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.},
  author={Mari Mori and John R. Mytinger and Lisa Christine Martin and Dennis Bartholomew and Scott E. Hickey},
  journal={JIMD reports},
Citrulline is among the metabolites measured by expanded newborn screening (NBS). While hypocitrullinemia can be a marker for deficiency of proximal urea cycle enzymes such as ornithine transcarbamylase (OTC), only a handful of state newborn screening programs in the United States officially report a low citrulline value for further work-up due to low positive predictive value. We report a case of a male infant who was found to have hypocitrullinemia on NBS. After excluding proximal urea cycle… CONTINUE READING