NutrientsHumansWolman DiseaseInfantSterol EsteraseEnzyme Replacement Therapy
Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.
Fiona J White, Javier de Las Heras, Celia Rodríguez-Borjabad, Simon A Jones, Alexander Y Kim, Jenna Moore, Florian Abel, Laura Frank, Rosie Jones, Suresh Vijay
Published: 202610.3390/nu18020233
Abstract
Infantile-onset lysosomal acid lipase deficiency (LAL-D) (Wolman disease, historically) is a rare inherited, rapidly progressive disorder caused by pathogenic variants in the LIPA gene, which encodes the enzyme LAL. LAL is essential for the metabolis…
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