Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening

Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening

Wolman disease (WD) is a lethal disorder defined by the deficiency of the lysosomal acid lipase enzyme. Patients present with intestinal failure, malnutrition, and hepatosplenomegaly. Enzyme replacement therapy (ERT) with dietary substrate reduction (DSR) significantly improves survival. We sought t...

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Bibliographic Details
Main Authors: Maria Jose de Castro Lopez, Fiona J. White, Victoria Holmes, Jane Roberts, Teresa H. Y. Wu, James A. Cooper, Heather J. Church, Gemma Petts, Robert F. Wynn, Simon A. Jones, Arunabha Ghosh
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:International Journal of Neonatal Screening
Subjects:
Wolman disease
enzyme replacement therapy
dietary substrate reduction
early diagnosis
early treatment
newborn screening
Online Access:https://www.mdpi.com/2409-515X/11/1/17
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