Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
ATP6AP1
N-palmitoyl-O-phosphocholineserine (PPCS)
Niemann-pick type C (NPC)
bile acids
congenital disorders of glycosylation (CDG)
oxysterols
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
03 2023
03 2023
Historique:
revised:
19
01
2023
received:
16
12
2022
accepted:
23
01
2023
pubmed:
1
2
2023
medline:
15
3
2023
entrez:
31
1
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36719165
doi: 10.1002/jimd.12595
pmc: PMC10023375
mid: NIHMS1872629
doi:
Substances chimiques
Oxysterols
0
Bile Acids and Salts
0
Hydrolases
EC 3.-
ATP6AP1 protein, human
0
Vacuolar Proton-Translocating ATPases
EC 3.6.1.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
326-334Subventions
Organisme : NIDDK NIH HHS
ID : R01DK099551
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HD008989
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000448
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK020579
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK099551
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002345
Pays : United States
Informations de copyright
© 2023 SSIEM. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
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