Article
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Genes - 30 Jul 2025
Urizar Elena, McCarron Eamon P, Gadepalli Chaitanya, Bentley Andrew, Woolfson Peter, Lin Siying, Iosifidis Christos, Browning Andrew C, Bassett John, Senarathne Udara D, Indika Neluwa-Liyanage R, Church Heather J, Cooper James A, Menendez Lorenzo Jorge, Farrugia Maria Elena, Jones Simon A, Black Graeme C, Stepien Karolina M
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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