Lipid Storage Diseases
摘要
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.