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Concept

Lysosomal Storage disorders

Lysosomal storage disorders

Inherited conditions in which lysosomal enzyme or transporter defects disrupt breakdown and recycling of cellular material.

Overview

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Lysosomes are cell compartments that break down and recycle materials. If an important or does not work, some materials can build up and harm cells.

Quick Facts

AT A GLANCE
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See how Lysosomal Storage disorders links to other biological records.

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ConceptEnzymescan result from defects inDiseaseGaucher Diseaseassociated with
All 2 Structured Connections
Lysosomal Storage disorders · ConceptCAN RESULT FROM DEFECTS IN →Enzymes · Concept
Gaucher Disease · DiseaseASSOCIATED WITH →Lysosomal Storage disorders · Concept

Recommended Reading

Trusted references for learning more about Lysosomal Storage disorders.

databaseGaucher diseaseMedlinePlus Genetics textbookProtein Sorting and TransportThe Cell · NCBI Bookshelf
Research Claims

LSD phenotypes reflect the affected substrate, cell type, residual function, secondary storage, and tissue accessibility. A single enzyme defect can have broad downstream effects.