LYSOSOMAL LIPID STORAGE DISEASES

Question 1

Most common of the lysosomal lipid storage diseases

Answer 1

GAUCHER DISEASE

Question 2

Autosomal recessive disorder caused by deficiency in the catabolic enzyme B-glucocerebrosidase

Answer 2

GAUCHER DISEASE

Question 3

Accumulation of unmetabolized substrate sphingolipid glucocerebroside in macrophage

Question 4

Gaucher cell have brilliant blue-gray cytoplasm with a striated or wrinkled appearance denoted to be “onion”-like

Answer 4

GAUCHER DISEASE

Question 5

Characterized by an accumulation of fat in cellular lysosomes of vital organs, which impairs function

Answer 5

NIEMANN-PICK DISEASE

Question 6

Deficiency in the enzyme sphingomyelinase

Answer 6

NIEMANN-PICK DISEASE

Question 7

Foam cells and sea-blue histiocytes can be seen in the bone marrow

Answer 7

NIEMANN-PICK DISEASE

Question 8

Sea-blue histiocytes are macrophages with lipofuscin-, glycophospholipid-, and sphingomyelin contained in cytoplasmic granules, that appear blue with Wright stain

Answer 8

NIEMANN-PICK DISEASE