A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. [ NCI ]
Synonyms: Lysosomal Storage Disorder Disorder of Lysosomal Enzymes PHOSPHOLIPIDOSIS Lysosomal Storage Disease
Term information
NCIT_C99147, NCIT_C90259, NCIT_C118168, NCIT_C61410, NCIT_C77526, NCIT_C116977, NCIT_C120531
Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND)