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Plasma bile acid and <jats:italic>N\u2010<\/jats:italic>palmitoyl\u2010<jats:italic>O\u2010<\/jats:italic>phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1\u2010CDG who presented with cholestatic liver failure and elevated plasma oxysterols and bile acid, mimicking NPC clinically and biochemically. On further investigation, PPCS, but not the bile acid derivative <jats:italic>N<\/jats:italic>\u2010(3\u03b2,5\u03b1,6\u03b2\u2010trihydroxy\u2010cholan\u201024\u2010oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1\u2010, ALG1\u2010, ALG8\u2010, and PMM2\u2010CDG. 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