Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyop...

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Bibliographic Details
Published in:JIMD Rep
Main Authors: Morton, Sarah U., Neilan, Edward G., Peake, Roy W. A., Shi, Jiahai, Schmitz-Abe, Klaus, Towne, Meghan, Markianos, Kyriacos, Prabhu, Sanjay P., Agrawal, Pankaj B.
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585110/
https://ncbi.nlm.nih.gov/pubmed/27858371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_17
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