Lecture 12 Lipid Storage Disorders

Which Lipid Storage Disorder is associated with a deficiency of Beta-glucocerebrosidase and WRINKLED macrophages?

Gaucher Disease

Which Lipid Storage Disorder is associated with sphingomyelinase deficiency and FOAMY MACROPHAGES?

Niemann Pick Disease

Which Lipid Storage disorder is associated with a Hexosaminidase A deficiency and can lead to DEATH IN CHILDREN?

Tay-Sachs Disease

Which Lipid storage disorder is associated with GALACTOSIDASE deficiency and can lead to RENAL FAILURE?

Fabry Disease

Which lipid storage disorder is associated with a ACID ESTERASE deficiency & lipid accumulation with INFANT DEATH?

Wolman Disease

Which Lipid Storage Disease is associated with HDL deficiency?

Tangier Disease

Which Lipid Storage Disease is associated with Sea-Blue Granules in macrophages, splenomegaly, and thrombocytopenia?

Sea-Blue Histiocyte Syndrome

What is Leukocytosis?

INCREASED WBC cound

What is a Left Shift?

Bone Marrow releases IMMATURE WBCs

What is a Leukemoid Reaction?

INCREASE in WBCs due to INFECTION or inflammation

What is Leukoerythroblastic picture?

INCREASE in MYEOLOIDS (WBCs, RBCs, PLTS) immatures

BLAST = IMMATURE