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Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

Sarah U Morton1,2, Edward G Neilan3, Roy W A Peake4

  • 1Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Hunnewell 4, Boston, MA, 02115, USA.

JIMD Reports
|November 19, 2016
PubMed
Summary

Mutations in the FBXL4 gene cause early-onset mitochondrial encephalomyopathy. New cases reveal hyperammonemia and cerebellar hypoplasia, suggesting anaplerotic therapy may help manage this rare genetic disorder.

Keywords:
AnaplerosisAspartateFBXL4HyperammonemiaLactic acidosisMitochondrial encephalomyopathy

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