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Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders

30 Jul 2025

Abstract excerpt

BACKGROUND: Lysosomal storage diseases (LSDs) are a genetically and clinically heterogeneous group of inborn errors of metabolism caused by variants in genes encoding lysosomal hydrolases, membrane proteins, activator proteins, or transporters. These disease-causing variants lead to enzymatic deficiencies and the progressive accumulation of undegraded substrates within lysosomes, disrupting cellular function...

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PMID: 40869962
DOI: 10.3390/genes16080915

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