The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
Aslı İnciEmine AktaşFiliz Başak Cengiz Erginİlyas OkurGürsel BiberoğluFatih Süheyl EzgüLeyla TümerPublished in: JPEN. Journal of parenteral and enteral nutrition (2021)
This is the first case of mitochondrial depletion syndrome effectively treated with parenteral KD for lactic acidosis.