Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
Guy HelmanSuvasini SharmaJoanna CrawfordBijoy PatraPuneet JainStephen J BentJ Andoni UrtizbereaRavindra K SaranRyan J TaftMarjo S van der KnaapCas SimonsPublished in: Neurology (2019)
GFPT1 encodes a widely expressed protein that controls the flux of glucose into the hexosamine-biosynthesis pathway that produces precursors for glycosylation of proteins. GFPT1 variants and defects in other enzymes of this pathway have previously been associated with congenital myasthenia. These findings identify leukoencephalopathy as a previously unrecognized phenotype in GFPT1-related disease and suggest that mitochondrial dysfunction could contribute to this disorder.