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Prognostication and Biomarker Potential of C26:0 Lysophosphatidylcholine in Adrenoleukodystrophy

Charles J. Billington, Arpana Rayannavar, Rebecca Tryon, Tory Kaye, Ashish Gupta, Troy C. Lund, Aida Lteif, Katherine L. Adriatico, Paul J. Orchard, Bradley S. Miller, Nishitha R. Pillai

2025JAMA Pediatrics13 citationsDOIOpen Access PDF

Abstract

This cohort study conducted among Minnesota children diagnosed with adrenoleukodystrophy through newborn screening examines correlation of C26:0 lysophosphatidylcholine (C26LPC) with clinical phenotype over 5 years and recommends adjusting early childhood surveillance regimens in children with lower C26LPC levels.

Topics & Concepts

MedicineAdrenoleukodystrophyLysophosphatidylcholineBiomarkerCohortNewborn screeningClinical phenotypePediatricsInternal medicineIntensive care medicinePhenotypeGeneticsPhosphatidylcholineMembranePhospholipidPeroxisomeReceptorGeneBiologyPeroxisome Proliferator-Activated ReceptorsMetabolism and Genetic DisordersHyperglycemia and glycemic control in critically ill and hospitalized patients
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