@article{efb68a840c704241a29e1ff91e2ff872,
title = "Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation",
abstract = "Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N-palmitoyl-O-phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1-CDG 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 N-(3β,5α,6β-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG. These findings highlight the importance of keeping CDG within the diagnostic differential when evaluating children with early onset severe liver disease and elevated bile acid or PPCS to prevent delayed diagnosis and treatment.",
keywords = "ATP6AP1, N-palmitoyl-O-phosphocholineserine (PPCS), Niemann-pick type C (NPC), bile acids, congenital disorders of glycosylation (CDG), oxysterols",
author = "{Dang Do}, {An N.} and Chang, {Irene J.} and Xutian Jiang and Wolfe, {Lynne A.} and Ng, {Bobby G.} and Christina Lam and Schnur, {Rhonda E.} and Katrina Allis and Hana Hansikova and Nina Ondruskova and O'Connor, {Shawn D.} and Amarilis Sanchez-Valle and Arve Vollo and Wang, {Raymond Y.} and Zoe Wolfenson and John Perreault and Ory, {Daniel S.} and Freeze, {Hudson H.} and Merritt, {J. Lawrence} and Porter, {Forbes D.}",
note = "Funding Information: Division of Intramural Research, National Institute of Child Health and Human Development (ZIA HD008989). The TCG and PPCS assays were supported by National Niemann‐Pick Disease Foundation (Xutian Jiang), the NIH CTSA Grant # UL1 TR000448 (Xutian Jiang), Together Strong NPC Foundation (Xutian Jiang), and the University of Pennsylvania Orphan Disease Center (MDBR‐17‐124‐NPC, Xutian Jiang). The Liferay Foundation (Raymond Y. Wang). The Rocket Fund and National Institutes of Health (NIH) grant R01DK099551 (Hudson H. Freeze). Ministry of Health of the Czech Republic, grant number NU22‐07‐00474 (Hana Hansikova, Nina Ondruskova). Eunice Kennedy Shriver Publisher Copyright: {\textcopyright} 2023 SSIEM. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.",
year = "2023",
month = mar,
doi = "10.1002/jimd.12595",
language = "English",
volume = "46",
pages = "326--334",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
number = "2",
}