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Lipid Storage Diseases
Book chapter

Lipid Storage Diseases

Olga Sazanova, Brian D. Schlick, Lugen Chen and Prerna Rastogi
Non-Neoplastic Hematologic Disorders, pp.639-656
Springer Nature Switzerland
2024
DOI: 10.1007/978-3-031-62373-8_47

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Abstract

Lipid storage diseases are a diverse group of more than 70 rare, distinct disease conditions with the common characteristic of the buildup of metabolic precursors in lysosomes. Intracellular lysosomes are responsible for the degradation of a variety of biomolecules, with several pathways involved. Deficiencies of one of these pathways will lead to accumulation of a substrate and subsequent cellular dysfunction. Various hematologic abnormalities across this spectrum of diseases have been described.
Gaucher disease Lipid storage diseases Lysosomal storage diseases Niemann–Pick disease type A Sphingolipidoses

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